"human"[ORGN] and LYST - SNP

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Select item 114641.

rs11464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:235830265 (GRCh38)
1:235993565 (GRCh37)
Canonical SPDI:: NC_000001.11:235830264:T:G
Gene:: LYST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.038988/2034 (ALFA)
G=0.00027/1 (TWINSUK)
G=0.001002/1 (GoNL)
G=0.001816/7 (ALSPAC)
G=0.013109/7 (MGP)
G=0.033/8292 (GnomAD_exomes)
G=0.041074/4982 (ExAC)
G=0.092593/20 (Qatari)
G=0.132188/18505 (GnomAD)
G=0.141207/37376 (TOPMED)
G=0.143088/1861 (GoESP)
G=0.153029/766 (1000Genomes)
G=0.20369/16030 (PAGE_STUDY)
T=0.323529/22 (SGDP_PRJ)
HGVS:: NC_000001.11:g.235830265T>G, NC_000001.10:g.235993565T>G, NG_007397.1:g.58376A>C, NM_000081.4:c.153A>C, NM_000081.3:c.153A>C, NR_102436.3:n.777A>C, NR_102436.2:n.772A>C, NM_001301365.1:c.153A>C, XM_011544033.3:c.153A>C, XM_011544033.2:c.153A>C, XM_011544033.1:c.153A>C, XM_011544037.3:c.153A>C, XM_011544037.2:c.153A>C, XM_011544037.1:c.153A>C, XM_011544035.3:c.153A>C, XM_011544035.2:c.153A>C, XM_011544035.1:c.153A>C, XM_011544039.3:c.153A>C, XM_011544039.2:c.153A>C, XM_011544039.1:c.153A>C, XM_011544032.2:c.153A>C, XM_011544032.1:c.153A>C, XM_011544031.2:c.153A>C, XM_011544031.1:c.153A>C, XM_047443026.1:c.153A>C, XM_047443040.1:c.153A>C, XM_047443046.1:c.153A>C, XM_047443038.1:c.153A>C, XM_047443027.1:c.153A>C, NM_001005736.1:c.153A>C, XM_047443064.1:c.153A>C

Select item 9416882.

rs941688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:235793902 (GRCh38)
1:235957202 (GRCh37)
Canonical SPDI:: NC_000001.11:235793901:G:A
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.042996/620 (ALFA)
A=0./0 (TWINSUK)
A=0.000035/1 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.001002/1 (GoNL)
A=0.041667/9 (Qatari)
A=0.058792/8220 (GnomAD)
A=0.061782/16353 (TOPMED)
A=0.062149/311 (1000Genomes)
G=0.411765/14 (SGDP_PRJ)
HGVS:: NC_000001.11:g.235793902G>A, NC_000001.10:g.235957202G>A, NG_007397.1:g.94739C>T

Select item 10631283.

rs1063128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235809567 (GRCh38)
1:235972867 (GRCh37)
Canonical SPDI:: NC_000001.11:235809566:T:C
Gene:: LYST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.400127/71974 (ALFA)
C=0.055556/34 (Vietnamese)
C=0.066212/194 (KOREAN)
C=0.115091/1929 (TOMMO)
C=0.305556/66 (Qatari)
C=0.317302/1589 (1000Genomes)
C=0.33351/631 (HapMap)
C=0.344889/86432 (GnomAD_exomes)
C=0.349987/42375 (ExAC)
T=0.382075/81 (SGDP_PRJ)
C=0.39699/1530 (ALSPAC)
C=0.401685/106322 (TOPMED)
C=0.407816/407 (GoNL)
C=0.41343/1533 (TWINSUK)
C=0.418304/1874 (Estonian)
C=0.418635/58552 (GnomAD)
C=0.424342/129 (FINRISK)
C=0.425/17 (GENOME_DK)
C=0.428571/24 (PRJEB36033)
C=0.428839/229 (MGP)
C=0.436491/5677 (GoESP)
T=0.45/9 (Siberian)
C=0.455/273 (NorthernSweden)
HGVS:: NC_000001.11:g.235809567T>C, NC_000001.10:g.235972867T>C, NG_007397.1:g.79074A>G, NM_000081.4:c.1251A>G, NM_000081.3:c.1251A>G, NM_001301365.1:c.1251A>G, XM_011544033.3:c.1251A>G, XM_011544033.2:c.1251A>G, XM_011544033.1:c.1251A>G, XM_011544037.3:c.1251A>G, XM_011544037.2:c.1251A>G, XM_011544037.1:c.1251A>G, XM_011544036.3:c.-1463A>G, XM_011544035.3:c.1251A>G, XM_011544035.2:c.1251A>G, XM_011544035.1:c.1251A>G, XM_011544039.3:c.1251A>G, XM_011544039.2:c.1251A>G, XM_011544039.1:c.1251A>G, XM_011544032.2:c.1251A>G, XM_011544032.1:c.1251A>G, XM_011544031.2:c.1251A>G, XM_011544031.1:c.1251A>G, XM_047443026.1:c.1251A>G, XM_047443040.1:c.1251A>G, XM_047443034.1:c.-1463A>G, XM_047443046.1:c.1251A>G, XM_047443038.1:c.1251A>G, XM_047443027.1:c.1251A>G, NM_001005736.1:c.1251A>G, XM_047443064.1:c.1251A>G

Select item 20113904.

rs2011390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:235782202 (GRCh38)
1:235945502 (GRCh37)
Canonical SPDI:: NC_000001.11:235782201:A:G,NC_000001.11:235782201:A:T
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.226839/3991 (ALFA)
G=0.003745/2 (MGP)
A=0.148855/78 (SGDP_PRJ)
A=0.157807/2644 (TOMMO)
A=0.158811/465 (KOREAN)
A=0.175/7 (GENOME_DK)
A=0.178638/895 (1000Genomes)
A=0.181072/331 (Korea1K)
A=0.194463/26781 (GnomAD)
A=0.196653/52052 (TOPMED)
A=0.211538/11 (Siberian)
A=0.212963/46 (Qatari)
A=0.224315/131 (NorthernSweden)
A=0.239213/887 (TWINSUK)
A=0.248573/958 (ALSPAC)
A=0.252505/252 (GoNL)
HGVS:: NC_000001.11:g.235782202A>G, NC_000001.11:g.235782202A>T, NC_000001.10:g.235945502A>G, NC_000001.10:g.235945502A>T, NG_007397.1:g.106439T>C, NG_007397.1:g.106439T>A

Select item 21807585.

rs2180758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:235829974 (GRCh38)
1:235993274 (GRCh37)
Canonical SPDI:: NC_000001.11:235829973:C:A,NC_000001.11:235829973:C:T
Gene:: LYST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.163435/3355 (ALFA)
T=0.000283/5 (TOMMO)
T=0.00463/1 (Vietnamese)
T=0.138351/693 (1000Genomes)
T=0.143519/31 (Qatari)
T=0.148364/11673 (PAGE_STUDY)
T=0.175/7 (GENOME_DK)
T=0.196129/304 (HapMap)
T=0.198984/52669 (TOPMED)
T=0.222882/31179 (GnomAD)
T=0.245719/947 (ALSPAC)
T=0.257012/953 (TWINSUK)
T=0.263527/263 (GoNL)
T=0.30625/1372 (Estonian)
T=0.34/204 (NorthernSweden)
C=0.420455/37 (SGDP_PRJ)
C=0.5/9 (Siberian)
HGVS:: NC_000001.11:g.235829974C>A, NC_000001.11:g.235829974C>T, NC_000001.10:g.235993274C>A, NC_000001.10:g.235993274C>T, NG_007397.1:g.58667G>T, NG_007397.1:g.58667G>A

Select item 22083836.

rs2208383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:235730615 (GRCh38)
1:235893915 (GRCh37)
Canonical SPDI:: NC_000001.11:235730614:A:G,NC_000001.11:235730614:A:T
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.343012/39963 (ALFA)
G=0.00027/1 (TWINSUK)
G=0.000519/2 (ALSPAC)
G=0.001678/1 (NorthernSweden)
G=0.004283/72 (TOMMO)
G=0.007684/14 (Korea1K)
G=0.012343/769 (GnomAD)
G=0.196885/986 (1000Genomes)
G=0.242072/458 (HapMap)
A=0.43913/101 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000001.11:g.235730615A>G, NC_000001.11:g.235730615A>T, NC_000001.10:g.235893915A>G, NC_000001.10:g.235893915A>T, NG_007397.1:g.158026T>C, NG_007397.1:g.158026T>A

Select item 22735847.

rs2273584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:235777150 (GRCh38)
1:235940450 (GRCh37)
Canonical SPDI:: NC_000001.11:235777149:C:T
Gene:: LYST (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.40186/24630 (ALFA)
T=0.053571/33 (Vietnamese)
T=0.066553/195 (KOREAN)
T=0.114949/1927 (TOMMO)
T=0.300926/65 (Qatari)
T=0.314647/1576 (1000Genomes)
T=0.343638/86280 (GnomAD_exomes)
T=0.348317/42239 (ExAC)
C=0.388889/84 (SGDP_PRJ)
T=0.396212/1527 (ALSPAC)
T=0.4/16 (GENOME_DK)
T=0.400722/106067 (TOPMED)
T=0.407816/407 (GoNL)
T=0.412891/1531 (TWINSUK)
T=0.417694/58397 (GnomAD)
T=0.418304/1874 (Estonian)
T=0.424342/129 (FINRISK)
T=0.435414/5663 (GoESP)
T=0.43633/233 (MGP)
C=0.45/9 (Siberian)
T=0.453333/272 (NorthernSweden)
HGVS:: NC_000001.11:g.235777150C>T, NC_000001.10:g.235940450C>T, NG_007397.1:g.111491G>A, NM_000081.4:c.5373G>A, NM_000081.3:c.5373G>A, NM_001301365.1:c.5373G>A, XM_011544033.3:c.5373G>A, XM_011544033.2:c.5373G>A, XM_011544033.1:c.5373G>A, XM_011544037.3:c.5373G>A, XM_011544037.2:c.5373G>A, XM_011544037.1:c.5373G>A, XM_011544036.3:c.3036G>A, XM_011544036.2:c.3036G>A, XM_011544036.1:c.3036G>A, XM_011544035.3:c.5373G>A, XM_011544035.2:c.5373G>A, XM_011544035.1:c.5373G>A, XM_011544039.3:c.5373G>A, XM_011544039.2:c.5373G>A, XM_011544039.1:c.5373G>A, XM_011544032.2:c.5373G>A, XM_011544032.1:c.5373G>A, XM_011544031.2:c.5373G>A, XM_011544031.1:c.5373G>A, XM_047443026.1:c.5373G>A, XM_047443040.1:c.5373G>A, XM_047443034.1:c.3036G>A, XM_047443046.1:c.5373G>A, XM_047443038.1:c.5373G>A, XM_047443027.1:c.5373G>A, NM_001005736.1:c.5373G>A, XM_047443064.1:c.5373G>A

Select item 22735858.

rs2273585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:235752840 (GRCh38)
1:235916140 (GRCh37)
Canonical SPDI:: NC_000001.11:235752839:C:G,NC_000001.11:235752839:C:T
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.420123/10230 (ALFA)
T=0.056604/12 (Vietnamese)
T=0.066553/195 (KOREAN)
T=0.115028/1928 (TOMMO)
T=0.305556/66 (Qatari)
T=0.318707/1596 (1000Genomes)
T=0.334567/633 (HapMap)
C=0.385321/84 (SGDP_PRJ)
T=0.399844/1541 (ALSPAC)
T=0.4/16 (GENOME_DK)
T=0.403109/106699 (TOPMED)
T=0.416834/416 (GoNL)
T=0.419633/1556 (TWINSUK)
T=0.430804/1930 (Estonian)
T=0.47/282 (NorthernSweden)
C=0.5/10 (Siberian)
HGVS:: NC_000001.11:g.235752840C>G, NC_000001.11:g.235752840C>T, NC_000001.10:g.235916140C>G, NC_000001.10:g.235916140C>T, NG_007397.1:g.135801G>C, NG_007397.1:g.135801G>A

Select item 22758569.

rs2275856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235709365 (GRCh38)
1:235872665 (GRCh37)
Canonical SPDI:: NC_000001.11:235709364:T:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.474823/11561 (ALFA)
C=0.037453/20 (MGP)
C=0.067918/199 (KOREAN)
C=0.069444/15 (Vietnamese)
C=0.115268/1932 (TOMMO)
T=0.282051/66 (SGDP_PRJ)
C=0.365741/79 (Qatari)
C=0.39725/1531 (ALSPAC)
C=0.4/16 (GENOME_DK)
C=0.407816/407 (GoNL)
C=0.412621/1530 (TWINSUK)
C=0.417857/1872 (Estonian)
C=0.430981/2158 (1000Genomes)
T=0.45/9 (Siberian)
C=0.453333/272 (NorthernSweden)
C=0.470402/890 (HapMap)
T=0.478603/66992 (GnomAD)
T=0.489618/129597 (TOPMED)
HGVS:: NC_000001.11:g.235709365T>C, NC_000001.10:g.235872665T>C, NG_007397.1:g.179276A>G, NG_082387.1:g.1222T>C

Select item 275332710.

rs2753327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:235731173 (GRCh38)
1:235894473 (GRCh37)
Canonical SPDI:: NC_000001.11:235731172:C:T
Gene:: LYST (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00092/183 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000394/31 (PAGE_STUDY)
T=0.000446/2 (Estonian)
T=0.000521/73 (GnomAD)
T=0.000536/142 (TOPMED)
T=0.000581/146 (GnomAD_exomes)
T=0.000643/78 (ExAC)
T=0.000692/9 (GoESP)
T=0.001348/5 (TWINSUK)
T=0.001667/1 (NorthernSweden)
T=0.001873/1 (MGP)
T=0.002076/8 (ALSPAC)
T=0.003145/1 (HapMap)
HGVS:: NC_000001.11:g.235731173C>T, NC_000001.10:g.235894473C>T, NG_007397.1:g.157468G>A, NM_000081.4:c.8806G>A, NM_000081.3:c.8806G>A, NM_001301365.1:c.8806G>A, XM_011544033.3:c.8968G>A, XM_011544033.2:c.8968G>A, XM_011544033.1:c.8968G>A, XM_011544036.3:c.6631G>A, XM_011544036.2:c.6631G>A, XM_011544036.1:c.6631G>A, XM_011544035.3:c.8968G>A, XM_011544035.2:c.8968G>A, XM_011544035.1:c.8968G>A, XM_011544032.2:c.8968G>A, XM_011544032.1:c.8968G>A, XM_011544031.2:c.8968G>A, XM_011544031.1:c.8968G>A, XM_047443026.1:c.8968G>A, XM_047443034.1:c.6469G>A, XM_047443027.1:c.8806G>A, NP_000072.2:p.Val2936Ile, NP_001288294.1:p.Val2936Ile, XP_011542335.1:p.Val2990Ile, XP_011542338.1:p.Val2211Ile, XP_011542337.1:p.Val2990Ile, XP_011542334.1:p.Val2990Ile, XP_011542333.1:p.Val2990Ile, XP_047298982.1:p.Val2990Ile, XP_047298990.1:p.Val2157Ile, XP_047298983.1:p.Val2936Ile

Select item 275332911.

rs2753329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235743683 (GRCh38)
1:235906983 (GRCh37)
Canonical SPDI:: NC_000001.11:235743682:T:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.310558/7595 (ALFA)
T=0.199074/43 (Vietnamese)
T=0.228669/670 (KOREAN)
T=0.249454/457 (Korea1K)
T=0.273438/105 (SGDP_PRJ)
T=0.27764/4653 (TOMMO)
C=0.284071/39766 (GnomAD)
C=0.293985/77815 (TOPMED)
C=0.334398/628 (HapMap)
C=0.339679/339 (GoNL)
C=0.341667/205 (NorthernSweden)
C=0.346548/1285 (TWINSUK)
T=0.354167/17 (Siberian)
C=0.356772/1375 (ALSPAC)
C=0.359152/1609 (Estonian)
C=0.390381/1955 (1000Genomes)
C=0.4/16 (GENOME_DK)
C=0.421296/91 (Qatari)
C=0.454787/513 (Daghestan)
HGVS:: NC_000001.11:g.235743683T>C, NC_000001.10:g.235906983T>C, NG_007397.1:g.144958A>G

Select item 373851912.

rs3738519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235758928 (GRCh38)
1:235922228 (GRCh37)
Canonical SPDI:: NC_000001.11:235758927:T:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.268164/11213 (ALFA)
C=0.004886/3 (Vietnamese)
C=0.019849/58 (KOREAN)
C=0.020742/38 (Korea1K)
C=0.066464/1114 (TOMMO)
C=0.2/8 (GENOME_DK)
C=0.203704/44 (Qatari)
C=0.209738/112 (MGP)
C=0.24097/59938 (GnomAD_exomes)
C=0.242192/1213 (1000Genomes)
C=0.248948/29584 (ExAC)
C=0.258985/490 (HapMap)
C=0.264401/1019 (ALSPAC)
C=0.27616/1024 (TWINSUK)
C=0.280561/280 (GoNL)
C=0.291934/77272 (TOPMED)
C=0.307979/43125 (GnomAD)
C=0.31893/4148 (GoESP)
C=0.325/1456 (Estonian)
C=0.35/105 (FINRISK)
C=0.358333/215 (NorthernSweden)
T=0.408537/67 (SGDP_PRJ)
T=0.5/9 (Siberian)
HGVS:: NC_000001.11:g.235758928T>C, NC_000001.10:g.235922228T>C, NG_007397.1:g.129713A>G

Select item 375423013.

rs3754230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:235663283 (GRCh38)
1:235826583 (GRCh37)
Canonical SPDI:: NC_000001.11:235663282:G:A,NC_000001.11:235663282:G:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.117206/23229 (ALFA)
A=0./0 (PRJEB36033)
A=0.037037/8 (Qatari)
A=0.08/48 (NorthernSweden)
A=0.095536/428 (Estonian)
A=0.102804/22 (Vietnamese)
A=0.110424/125 (Daghestan)
A=0.113724/237 (HGDP_Stanford)
A=0.118932/441 (TWINSUK)
A=0.123481/25323 (GENOGRAPHIC)
A=0.125/5 (GENOME_DK)
A=0.125251/125 (GoNL)
A=0.12591/33327 (TOPMED)
A=0.127919/493 (ALSPAC)
A=0.132275/250 (HapMap)
A=0.132857/2227 (TOMMO)
A=0.133788/392 (KOREAN)
A=0.138351/693 (1000Genomes)
A=0.149017/273 (Korea1K)
G=0.357143/5 (Siberian)
G=0.457143/64 (SGDP_PRJ)
HGVS:: NC_000001.11:g.235663283G>A, NC_000001.11:g.235663283G>C, NC_000001.10:g.235826583G>A, NC_000001.10:g.235826583G>C, NG_007397.1:g.225358C>T, NG_007397.1:g.225358C>G

Select item 375423214.

rs3754232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:235693601 (GRCh38)
1:235856901 (GRCh37)
Canonical SPDI:: NC_000001.11:235693600:G:A,NC_000001.11:235693600:G:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.428782/9025 (ALFA)
A=0.048464/142 (KOREAN)
A=0.050538/847 (TOMMO)
A=0.056604/12 (Vietnamese)
A=0.235669/74 (HapMap)
A=0.251562/1260 (1000Genomes)
A=0.385885/102140 (TOPMED)
G=0.402778/87 (SGDP_PRJ)
A=0.405644/460 (Daghestan)
A=0.407407/88 (Qatari)
A=0.414263/57977 (GnomAD)
G=0.423077/11 (Siberian)
G=0.435/261 (NorthernSweden)
A=0.45/18 (GENOME_DK)
G=0.471944/471 (GoNL)
G=0.476268/1766 (TWINSUK)
G=0.480357/2152 (Estonian)
G=0.494382/264 (MGP)
G=0.496108/1912 (ALSPAC)
HGVS:: NC_000001.11:g.235693601G>A, NC_000001.11:g.235693601G>C, NC_000001.10:g.235856901G>A, NC_000001.10:g.235856901G>C, NG_007397.1:g.195040C>T, NG_007397.1:g.195040C>G

Select item 376806415.

rs3768064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:235808339 (GRCh38)
1:235971639 (GRCh37)
Canonical SPDI:: NC_000001.11:235808338:T:A,NC_000001.11:235808338:T:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.030451/1375 (ALFA)
C=0./0 (PRJEB36033)
C=0.000893/4 (Estonian)
C=0.001002/1 (GoNL)
C=0.002076/8 (ALSPAC)
C=0.002697/10 (TWINSUK)
C=0.004762/1 (Vietnamese)
C=0.016854/9 (MGP)
C=0.019507/57 (KOREAN)
C=0.020742/38 (Korea1K)
C=0.032407/7 (Qatari)
C=0.06611/1108 (TOMMO)
C=0.074896/10492 (GnomAD)
C=0.083025/21976 (TOPMED)
C=0.083067/52 (Chileans)
C=0.099469/498 (1000Genomes)
C=0.116915/188 (HapMap)
T=0.442857/31 (SGDP_PRJ)
HGVS:: NC_000001.11:g.235808339T>A, NC_000001.11:g.235808339T>C, NC_000001.10:g.235971639T>A, NC_000001.10:g.235971639T>C, NG_007397.1:g.80302A>T, NG_007397.1:g.80302A>G, XM_011544036.3:c.-235A>T, XM_011544036.3:c.-235A>G, XM_047443034.1:c.-235A>T, XM_047443034.1:c.-235A>G

Select item 376806616.

rs3768066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:235808463 (GRCh38)
1:235971763 (GRCh37)
Canonical SPDI:: NC_000001.11:235808462:A:G,NC_000001.11:235808462:A:T
Gene:: LYST (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.137898/26181 (ALFA)
G=0.046543/136 (KOREAN)
G=0.048591/814 (TOMMO)
G=0.06871/130 (HapMap)
G=0.072455/363 (1000Genomes)
G=0.078947/24 (FINRISK)
G=0.093527/419 (Estonian)
G=0.095/57 (NorthernSweden)
G=0.1035/12520 (ExAC)
G=0.108859/28814 (TOPMED)
G=0.109277/15252 (GnomAD)
G=0.115741/25 (Qatari)
G=0.116485/1515 (GoESP)
G=0.124601/78 (Chileans)
G=0.127255/127 (GoNL)
G=0.133368/514 (ALSPAC)
G=0.13781/511 (TWINSUK)
G=0.187266/100 (MGP)
G=0.225/9 (GENOME_DK)
G=0.243902/20 (PRJEB36033)
A=0.46875/30 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000001.11:g.235808463A>G, NC_000001.11:g.235808463A>T, NC_000001.10:g.235971763A>G, NC_000001.10:g.235971763A>T, NG_007397.1:g.80178T>C, NG_007397.1:g.80178T>A, NM_000081.4:c.2355T>C, NM_000081.4:c.2355T>A, NM_000081.3:c.2355T>C, NM_000081.3:c.2355T>A, NM_001301365.1:c.2355T>C, NM_001301365.1:c.2355T>A, XM_011544033.3:c.2355T>C, XM_011544033.3:c.2355T>A, XM_011544033.2:c.2355T>C, XM_011544033.2:c.2355T>A, XM_011544033.1:c.2355T>C, XM_011544033.1:c.2355T>A, XM_011544037.3:c.2355T>C, XM_011544037.3:c.2355T>A, XM_011544037.2:c.2355T>C, XM_011544037.2:c.2355T>A, XM_011544037.1:c.2355T>C, XM_011544037.1:c.2355T>A, XM_011544036.3:c.-359T>C, XM_011544036.3:c.-359T>A, XM_011544035.3:c.2355T>C, XM_011544035.3:c.2355T>A, XM_011544035.2:c.2355T>C, XM_011544035.2:c.2355T>A, XM_011544035.1:c.2355T>C, XM_011544035.1:c.2355T>A, XM_011544039.3:c.2355T>C, XM_011544039.3:c.2355T>A, XM_011544039.2:c.2355T>C, XM_011544039.2:c.2355T>A, XM_011544039.1:c.2355T>C, XM_011544039.1:c.2355T>A, XM_011544032.2:c.2355T>C, XM_011544032.2:c.2355T>A, XM_011544032.1:c.2355T>C, XM_011544032.1:c.2355T>A, XM_011544031.2:c.2355T>C, XM_011544031.2:c.2355T>A, XM_011544031.1:c.2355T>C, XM_011544031.1:c.2355T>A, XM_047443026.1:c.2355T>C, XM_047443026.1:c.2355T>A, XM_047443040.1:c.2355T>C, XM_047443040.1:c.2355T>A, XM_047443034.1:c.-359T>C, XM_047443034.1:c.-359T>A, XM_047443046.1:c.2355T>C, XM_047443046.1:c.2355T>A, XM_047443038.1:c.2355T>C, XM_047443038.1:c.2355T>A, XM_047443027.1:c.2355T>C, XM_047443027.1:c.2355T>A, NM_001005736.1:c.2355T>C, NM_001005736.1:c.2355T>A, XM_047443064.1:c.2355T>C, XM_047443064.1:c.2355T>A

Select item 376806717.

rs3768067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235810450 (GRCh38)
1:235973750 (GRCh37)
Canonical SPDI:: NC_000001.11:235810449:T:C
Gene:: LYST (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000834/141 (ALFA)
C=0./0 (PRJEB36033)
C=0.000271/38 (GnomAD)
C=0.000563/149 (TOPMED)
C=0.000711/86 (ExAC)
C=0.000877/216 (GnomAD_exomes)
C=0.00203/10 (1000Genomes)
C=0.002211/174 (PAGE_STUDY)
C=0.003145/1 (HapMap)
C=0.006972/117 (TOMMO)
C=0.011978/35 (KOREAN)
C=0.012009/22 (Korea1K)
C=0.018939/15 (PRJEB37584)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.235810450T>C, NC_000001.10:g.235973750T>C, NG_007397.1:g.78191A>G, NM_000081.4:c.368A>G, NM_000081.3:c.368A>G, NM_001301365.1:c.368A>G, XM_011544033.3:c.368A>G, XM_011544033.2:c.368A>G, XM_011544033.1:c.368A>G, XM_011544037.3:c.368A>G, XM_011544037.2:c.368A>G, XM_011544037.1:c.368A>G, XM_011544036.3:c.-2346A>G, XM_011544035.3:c.368A>G, XM_011544035.2:c.368A>G, XM_011544035.1:c.368A>G, XM_011544039.3:c.368A>G, XM_011544039.2:c.368A>G, XM_011544039.1:c.368A>G, XM_011544032.2:c.368A>G, XM_011544032.1:c.368A>G, XM_011544031.2:c.368A>G, XM_011544031.1:c.368A>G, XM_047443026.1:c.368A>G, XM_047443040.1:c.368A>G, XM_047443034.1:c.-2346A>G, XM_047443046.1:c.368A>G, XM_047443038.1:c.368A>G, XM_047443027.1:c.368A>G, NM_001005736.1:c.368A>G, XM_047443064.1:c.368A>G, NP_000072.2:p.His123Arg, NP_001288294.1:p.His123Arg, XP_011542335.1:p.His123Arg, XP_011542339.1:p.His123Arg, XP_011542337.1:p.His123Arg, XP_011542341.1:p.His123Arg, XP_011542334.1:p.His123Arg, XP_011542333.1:p.His123Arg, XP_047298982.1:p.His123Arg, XP_047298996.1:p.His123Arg, XP_047299002.1:p.His123Arg, XP_047298994.1:p.His123Arg, XP_047298983.1:p.His123Arg, XP_047299020.1:p.His123Arg

LitVar

Select item 381901318.

rs3819013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235664143 (GRCh38)
1:235827443 (GRCh37)
Canonical SPDI:: NC_000001.11:235664142:T:C
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.488711/76973 (ALFA)
C=0.048123/141 (KOREAN)
C=0.050573/848 (TOMMO)
C=0.056604/12 (Vietnamese)
C=0.250781/1256 (1000Genomes)
C=0.280952/531 (HapMap)
C=0.303514/190 (Chileans)
C=0.384805/101854 (TOPMED)
C=0.391386/209 (MGP)
T=0.405/81 (SGDP_PRJ)
C=0.415204/58131 (GnomAD)
T=0.423077/11 (Siberian)
T=0.43/258 (NorthernSweden)
C=0.435185/94 (Qatari)
T=0.468938/468 (GoNL)
C=0.475/19 (GENOME_DK)
T=0.475728/1764 (TWINSUK)
T=0.479241/2147 (Estonian)
T=0.494811/1907 (ALSPAC)
HGVS:: NC_000001.11:g.235664143T>C, NC_000001.10:g.235827443T>C, NG_007397.1:g.224498A>G

Select item 382055319.

rs3820553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:235809135 (GRCh38)
1:235972435 (GRCh37)
Canonical SPDI:: NC_000001.11:235809134:T:C
Gene:: LYST (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.397647/68338 (ALFA)
C=0.055195/34 (Vietnamese)
C=0.066212/194 (KOREAN)
C=0.115091/1929 (TOMMO)
C=0.305556/66 (Qatari)
C=0.317302/1589 (1000Genomes)
C=0.332452/629 (HapMap)
C=0.34496/86525 (GnomAD_exomes)
C=0.349917/42412 (ExAC)
T=0.382075/81 (SGDP_PRJ)
C=0.39699/1530 (ALSPAC)
C=0.401609/106302 (TOPMED)
C=0.407816/407 (GoNL)
C=0.4137/1534 (TWINSUK)
C=0.418436/58556 (GnomAD)
C=0.418527/1875 (Estonian)
C=0.424342/129 (FINRISK)
C=0.425/17 (GENOME_DK)
C=0.43633/233 (MGP)
C=0.436645/5679 (GoESP)
T=0.45/9 (Siberian)
C=0.455/273 (NorthernSweden)
HGVS:: NC_000001.11:g.235809135T>C, NC_000001.10:g.235972435T>C, NG_007397.1:g.79506A>G, NM_000081.4:c.1683A>G, NM_000081.3:c.1683A>G, NM_001301365.1:c.1683A>G, XM_011544033.3:c.1683A>G, XM_011544033.2:c.1683A>G, XM_011544033.1:c.1683A>G, XM_011544037.3:c.1683A>G, XM_011544037.2:c.1683A>G, XM_011544037.1:c.1683A>G, XM_011544036.3:c.-1031A>G, XM_011544035.3:c.1683A>G, XM_011544035.2:c.1683A>G, XM_011544035.1:c.1683A>G, XM_011544039.3:c.1683A>G, XM_011544039.2:c.1683A>G, XM_011544039.1:c.1683A>G, XM_011544032.2:c.1683A>G, XM_011544032.1:c.1683A>G, XM_011544031.2:c.1683A>G, XM_011544031.1:c.1683A>G, XM_047443026.1:c.1683A>G, XM_047443040.1:c.1683A>G, XM_047443034.1:c.-1031A>G, XM_047443046.1:c.1683A>G, XM_047443038.1:c.1683A>G, XM_047443027.1:c.1683A>G, NM_001005736.1:c.1683A>G, XM_047443064.1:c.1683A>G

Select item 383136220.

rs3831362 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGTTGTT>-,GTT,GTTGTT,GTTGTTGTTGTT,GTTGTTGTTGTTGTT [Show Flanks]
Chromosome:: 1:235715147 (GRCh38)
1:235878447 (GRCh37)
Canonical SPDI:: NC_000001.11:235715131:GTTGTTGTTGTTGTTGTTGTTGTT:GTTGTTGTTGTTGTT,NC_000001.11:235715131:GTTGTTGTTGTTGTTGTTGTTGTT:GTTGTTGTTGTTGTTGTT,NC_000001.11:235715131:GTTGTTGTTGTTGTTGTTGTTGTT:GTTGTTGTTGTTGTTGTTGTT,NC_000001.11:235715131:GTTGTTGTTGTTGTTGTTGTTGTT:GTTGTTGTTGTTGTTGTTGTTGTTGTT,NC_000001.11:235715131:GTTGTTGTTGTTGTTGTTGTTGTT:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTT
Gene:: LYST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTTGTTGTTGTTGTT=0./0 (ALFA)
-=0.06151/269 (1000Genomes)
GTT=0.12264/26 (Vietnamese)
GTT=0.12591/551 (Estonian)
HGVS:: NC_000001.11:g.235715132GTT[5], NC_000001.11:g.235715132GTT[6], NC_000001.11:g.235715132GTT[7], NC_000001.11:g.235715132GTT[9], NC_000001.11:g.235715132GTT[10], NC_000001.10:g.235878432GTT[5], NC_000001.10:g.235878432GTT[6], NC_000001.10:g.235878432GTT[7], NC_000001.10:g.235878432GTT[9], NC_000001.10:g.235878432GTT[10], NG_007397.1:g.173486AAC[5], NG_007397.1:g.173486AAC[6], NG_007397.1:g.173486AAC[7], NG_007397.1:g.173486AAC[9], NG_007397.1:g.173486AAC[10]

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