"human"[ORGN] and LRRC27 - SNP

Search results

Items: 1 to 20 of 23678

<< First< Prev

Page of 1184

Next >Last >>

Select item 1146666231.

rs114666623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:132331541 (GRCh38)
10:134145045 (GRCh37)
Canonical SPDI:: NC_000010.11:132331540:T:C,NC_000010.11:132331540:T:G
Gene:: LRRC27 (Varview), STK32C (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00091/22 (ALFA)
C=0.00463/1 (Qatari)
C=0.00732/42 (GoESP)
C=0.01202/60 (1000Genomes)
C=0.01221/961 (PAGE_STUDY)
HGVS:: NC_000010.11:g.132331541T>C, NC_000010.11:g.132331541T>G, NC_000010.10:g.134145045T>C, NC_000010.10:g.134145045T>G, XM_011539688.2:c.196A>G, XM_011539688.2:c.196A>C, XM_011539688.1:c.196A>G, XM_011539688.1:c.196A>C, NM_001318878.2:c.196A>G, NM_001318878.2:c.196A>C, NM_001318878.1:c.196A>G, NM_001318878.1:c.196A>C, XM_017016100.2:c.196A>G, XM_017016100.2:c.196A>C, XM_017016100.1:c.196A>G, XM_017016100.1:c.196A>C, XM_017016101.2:c.196A>G, XM_017016101.2:c.196A>C, XM_017016101.1:c.196A>G, XM_017016101.1:c.196A>C, NM_001318881.2:c.196A>G, NM_001318881.2:c.196A>C, NM_001318881.1:c.196A>G, NM_001318881.1:c.196A>C, XM_024447947.2:c.196A>G, XM_024447947.2:c.196A>C, XM_024447947.1:c.-256A>G, XM_024447947.1:c.-256A>C, NM_001318882.2:c.196A>G, NM_001318882.2:c.196A>C, NM_001318882.1:c.196A>G, NM_001318882.1:c.196A>C, NM_001318880.2:c.196A>G, NM_001318880.2:c.196A>C, NM_001318880.1:c.196A>G, NM_001318880.1:c.196A>C, NM_001318883.2:c.196A>G, NM_001318883.2:c.196A>C, NM_001318883.1:c.196A>G, NM_001318883.1:c.196A>C, XM_047425112.1:c.196A>G, XM_047425112.1:c.196A>C, XP_011537990.1:p.Asn66Asp, XP_011537990.1:p.Asn66His, NP_001305807.1:p.Asn66Asp, NP_001305807.1:p.Asn66His, XP_016871589.1:p.Asn66Asp, XP_016871589.1:p.Asn66His, XP_016871590.1:p.Asn66Asp, XP_016871590.1:p.Asn66His, NP_001305810.1:p.Asn66Asp, NP_001305810.1:p.Asn66His, XP_024303715.2:p.Asn66Asp, XP_024303715.2:p.Asn66His, NP_001305811.1:p.Asn66Asp, NP_001305811.1:p.Asn66His, NP_001305809.1:p.Asn66Asp, NP_001305809.1:p.Asn66His, NP_001305812.1:p.Asn66Asp, NP_001305812.1:p.Asn66His, XP_047281068.1:p.Asn66Asp, XP_047281068.1:p.Asn66His

Select item 138822.

rs13882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:132331662 (GRCh38)
10:134145166 (GRCh37)
Canonical SPDI:: NC_000010.11:132331661:T:C
Gene:: LRRC27 (Varview), STK32C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.389058/19130 (ALFA)
C=0.209738/112 (MGP)
C=0.326827/1637 (1000Genomes)
C=0.336198/80990 (GnomAD_exomes)
C=0.338816/103 (FINRISK)
C=0.342971/39301 (ExAC)
C=0.351667/211 (NorthernSweden)
C=0.368873/97637 (TOPMED)
C=0.371689/52032 (GnomAD)
C=0.375/15 (GENOME_DK)
T=0.375/9 (Siberian)
C=0.3838/1123 (KOREAN)
C=0.385595/2211 (GoESP)
C=0.397926/729 (Korea1K)
C=0.398153/6673 (TOMMO)
T=0.401515/106 (SGDP_PRJ)
C=0.407407/88 (Qatari)
C=0.412723/1849 (Estonian)
HGVS:: NC_000010.11:g.132331662T>C, NC_000010.10:g.134145166T>C, XM_011539688.2:c.75A>G, XM_011539688.1:c.75A>G, NM_001318878.2:c.75A>G, NM_001318878.1:c.75A>G, XM_017016100.2:c.75A>G, XM_017016100.1:c.75A>G, XM_017016101.2:c.75A>G, XM_017016101.1:c.75A>G, NM_001318881.2:c.75A>G, NM_001318881.1:c.75A>G, XM_024447947.2:c.75A>G, XM_024447947.1:c.-377A>G, NM_001318882.2:c.75A>G, NM_001318882.1:c.75A>G, NM_001318880.2:c.75A>G, NM_001318880.1:c.75A>G, NM_001318883.2:c.75A>G, NM_001318883.1:c.75A>G, XM_047425112.1:c.75A>G

Select item 10106373.

rs1010637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:132340461 (GRCh38)
10:134153965 (GRCh37)
Canonical SPDI:: NC_000010.11:132340460:G:A
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.182319/3444 (ALFA)
A=0.000684/2 (KOREAN)
A=0.078701/394 (1000Genomes)
A=0.1/4 (GENOME_DK)
A=0.153342/40588 (TOPMED)
A=0.156046/21852 (GnomAD)
A=0.171296/37 (Qatari)
A=0.175/105 (NorthernSweden)
A=0.182366/817 (Estonian)
A=0.21875/14 (PRJEB36033)
A=0.231661/859 (TWINSUK)
A=0.232486/896 (ALSPAC)
A=0.238477/238 (GoNL)
G=0.333333/4 (Siberian)
G=0.435897/34 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132340461G>A, NC_000010.10:g.134153965G>A

Select item 10522814.

rs1052281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:132330438 (GRCh38)
10:134143942 (GRCh37)
Canonical SPDI:: NC_000010.11:132330437:C:G,NC_000010.11:132330437:C:T
Gene:: LRRC27 (Varview), STK32C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.39963/63765 (ALFA)
T=0.365/219 (NorthernSweden)
T=0.371672/1089 (KOREAN)
C=0.375/108 (SGDP_PRJ)
C=0.375/9 (Siberian)
T=0.37664/1886 (1000Genomes)
T=0.382617/6413 (TOMMO)
T=0.385714/81 (Vietnamese)
T=0.3881/711 (Korea1K)
T=0.404494/216 (MGP)
T=0.409445/1578 (ALSPAC)
T=0.413161/1532 (TWINSUK)
T=0.417156/110417 (TOPMED)
T=0.417462/58443 (GnomAD)
T=0.425/17 (GENOME_DK)
T=0.432866/432 (GoNL)
T=0.434598/1947 (Estonian)
T=0.441332/835 (HapMap)
T=0.481481/104 (Qatari)
HGVS:: NC_000010.11:g.132330438C>G, NC_000010.11:g.132330438C>T, NC_000010.10:g.134143942C>G, NC_000010.10:g.134143942C>T, NM_001318880.2:c.*40G>C, NM_001318880.2:c.*40G>A, NM_001318880.1:c.*40G>C, NM_001318880.1:c.*40G>A, NM_001318883.2:c.303G>C, NM_001318883.2:c.303G>A, NM_001318883.1:c.303G>C, NM_001318883.1:c.303G>A, NP_001305812.1:p.Gln101His

Select item 10540385.

rs1054038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:132375370 (GRCh38)
10:134188874 (GRCh37)
Canonical SPDI:: NC_000010.11:132375369:G:A
Gene:: LRRC27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.265711/66552 (ALFA)
A=0.000342/1 (KOREAN)
A=0.002525/2 (PRJEB37584)
A=0.00463/1 (Vietnamese)
A=0.165834/830 (1000Genomes)
A=0.17791/13977 (PAGE_STUDY)
A=0.20081/347 (HapMap)
A=0.205/123 (NorthernSweden)
A=0.215402/965 (Estonian)
A=0.217813/247 (Daghestan)
A=0.225/9 (GENOME_DK)
A=0.234486/62066 (TOPMED)
A=0.235266/32924 (GnomAD)
A=0.235955/126 (MGP)
G=0.285714/4 (Siberian)
A=0.287575/287 (GoNL)
A=0.290348/1119 (ALSPAC)
A=0.293689/1089 (TWINSUK)
A=0.361111/78 (Qatari)
G=0.442029/61 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132375370G>A, NC_000010.10:g.134188874G>A, XM_011540210.4:c.*128G>A, XM_011540210.3:c.*128G>A, XM_011540210.2:c.*128G>A, XM_011540210.1:c.*128G>A, NM_030626.3:c.*128G>A, NM_030626.2:c.*128G>A, NM_001143757.2:c.*128G>A, NM_001143757.1:c.*128G>A, XM_011540208.2:c.*128G>A, XM_011540208.1:c.*128G>A, XM_047425785.1:c.*128G>A, XM_047425786.1:c.*128G>A

Select item 10571966.

rs1057196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:132353284 (GRCh38)
10:134166788 (GRCh37)
Canonical SPDI:: NC_000010.11:132353283:C:T
Gene:: LRRC27 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.132353284C>T, NC_000010.10:g.134166788C>T, XM_017016693.3:c.*324C>T, XM_017016693.2:c.*324C>T, XM_017016693.1:c.*324C>T, XM_017016692.3:c.*263C>T, XM_017016692.2:c.*263C>T, XM_017016692.1:c.*263C>T, XM_017016691.3:c.*63C>T, XM_017016691.2:c.*63C>T, XM_017016691.1:c.*63C>T, NM_001143759.2:c.*395C>T, NM_001143759.1:c.*395C>T, NM_001143758.2:c.*324C>T, NM_001143758.1:c.*324C>T, XM_047425791.1:c.*263C>T, XM_047425794.1:c.*324C>T, XM_047425792.1:c.*263C>T, XM_047425790.1:c.*63C>T

Select item 11321647.

rs1132164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:132330482 (GRCh38)
10:134143986 (GRCh37)
Canonical SPDI:: NC_000010.11:132330481:C:A,NC_000010.11:132330481:C:G,NC_000010.11:132330481:C:T
Gene:: LRRC27 (Varview), STK32C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.141283/141 (GoNL)
T=0.312364/5169 (ExAC)
T=0.329179/48332 (GnomAD_exomes)
T=0.333073/1668 (1000Genomes)
T=0.35/210 (NorthernSweden)
T=0.370648/1086 (KOREAN)
C=0.375/9 (Siberian)
T=0.375016/99263 (TOPMED)
T=0.375354/52428 (GnomAD)
T=0.38244/6410 (TOMMO)
T=0.3881/711 (Korea1K)
T=0.392839/1514 (ALSPAC)
T=0.393258/210 (MGP)
T=0.393743/1460 (TWINSUK)
T=0.4/16 (GENOME_DK)
T=0.412037/89 (Qatari)
T=0.412277/1847 (Estonian)
C=0.429104/115 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132330482C>A, NC_000010.11:g.132330482C>G, NC_000010.11:g.132330482C>T, NC_000010.10:g.134143986C>A, NC_000010.10:g.134143986C>G, NC_000010.10:g.134143986C>T, NM_001318880.2:c.305G>T, NM_001318880.2:c.305G>C, NM_001318880.2:c.305G>A, NM_001318880.1:c.305G>T, NM_001318880.1:c.305G>C, NM_001318880.1:c.305G>A, NM_001318883.2:c.259G>T, NM_001318883.2:c.259G>C, NM_001318883.2:c.259G>A, NM_001318883.1:c.259G>T, NM_001318883.1:c.259G>C, NM_001318883.1:c.259G>A, NP_001305809.1:p.Ser102Ile, NP_001305809.1:p.Ser102Thr, NP_001305809.1:p.Ser102Asn, NP_001305812.1:p.Ala87Ser, NP_001305812.1:p.Ala87Pro, NP_001305812.1:p.Ala87Thr

Select item 11321658.

rs1132165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:132330481 (GRCh38)
10:134143985 (GRCh37)
Canonical SPDI:: NC_000010.11:132330480:G:T
Gene:: LRRC27 (Varview), STK32C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.391304/68461 (ALFA)
T=0.136273/136 (GoNL)
T=0.297297/22 (PRJEB36033)
T=0.312379/5168 (ExAC)
T=0.313942/653 (HGDP_Stanford)
T=0.329205/48349 (GnomAD_exomes)
T=0.333073/1668 (1000Genomes)
T=0.35/210 (NorthernSweden)
T=0.370648/1086 (KOREAN)
G=0.375/9 (Siberian)
T=0.375016/99263 (TOPMED)
T=0.375412/52433 (GnomAD)
T=0.382011/722 (HapMap)
T=0.38244/6410 (TOMMO)
T=0.3881/711 (Korea1K)
T=0.392839/1514 (ALSPAC)
T=0.393258/210 (MGP)
T=0.393743/1460 (TWINSUK)
T=0.4/16 (GENOME_DK)
T=0.412037/89 (Qatari)
T=0.412277/1847 (Estonian)
G=0.429104/115 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132330481G>T, NC_000010.10:g.134143985G>T, NM_001318880.2:c.306C>A, NM_001318880.1:c.306C>A, NM_001318883.2:c.260C>A, NM_001318883.1:c.260C>A, NP_001305809.1:p.Ser102Arg, NP_001305812.1:p.Ala87Asp

Select item 20203459.

rs2020345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:132358438 (GRCh38)
10:134171942 (GRCh37)
Canonical SPDI:: NC_000010.11:132358437:G:C
Gene:: LRRC27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01307/155 (ALFA)
G=0./0 (SGDP_PRJ)
C=0.00713/72 (GnomAD)
C=0.02474/300 (TOMMO)
C=0.07415/171 (KOREAN)
HGVS:: NC_000010.11:g.132358438G>C, NC_000010.10:g.134171942G>C

Select item 202034610.

rs2020346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:132358434 (GRCh38)
10:134171938 (GRCh37)
Canonical SPDI:: NC_000010.11:132358433:C:T
Gene:: LRRC27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0306/363 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.0016/8 (1000Genomes)
HGVS:: NC_000010.11:g.132358434C>T, NC_000010.10:g.134171938C>T

Select item 225959411.

rs2259594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:132337530 (GRCh38)
10:134151034 (GRCh37)
Canonical SPDI:: NC_000010.11:132337529:A:G,NC_000010.11:132337529:A:T
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.39618/13234 (ALFA)
G=0.338816/103 (FINRISK)
G=0.343223/1719 (1000Genomes)
G=0.343874/84296 (GnomAD_exomes)
G=0.351667/211 (NorthernSweden)
G=0.352462/41477 (ExAC)
G=0.367925/78 (Vietnamese)
G=0.375/15 (GENOME_DK)
A=0.375/9 (Siberian)
G=0.383618/1124 (KOREAN)
G=0.387514/102571 (TOPMED)
G=0.387831/733 (HapMap)
G=0.388919/54458 (GnomAD)
G=0.393617/1517 (ALSPAC)
G=0.397004/212 (MGP)
A=0.397059/108 (SGDP_PRJ)
G=0.397519/1474 (TWINSUK)
G=0.399037/6688 (TOMMO)
G=0.400655/734 (Korea1K)
G=0.401353/5220 (GoESP)
G=0.407407/88 (Qatari)
G=0.410822/410 (GoNL)
G=0.412277/1847 (Estonian)
HGVS:: NC_000010.11:g.132337530A>G, NC_000010.11:g.132337530A>T, NC_000010.10:g.134151034A>G, NC_000010.10:g.134151034A>T

Select item 225960012.

rs2259600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:132337784 (GRCh38)
10:134151288 (GRCh37)
Canonical SPDI:: NC_000010.11:132337783:A:C,NC_000010.11:132337783:A:G,NC_000010.11:132337783:A:T
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.396413/9682 (ALFA)
T=0./0 (KOREAN)
G=0.342286/1714 (1000Genomes)
G=0.351667/211 (NorthernSweden)
G=0.37037/80 (Vietnamese)
G=0.375/15 (GENOME_DK)
A=0.375/9 (Siberian)
G=0.387506/102569 (TOPMED)
G=0.388717/54415 (GnomAD)
G=0.389006/736 (HapMap)
G=0.393876/1518 (ALSPAC)
A=0.397059/108 (SGDP_PRJ)
G=0.397249/1473 (TWINSUK)
G=0.399108/6689 (TOMMO)
G=0.400655/734 (Korea1K)
G=0.406367/217 (MGP)
G=0.407407/88 (Qatari)
G=0.410822/410 (GoNL)
G=0.412723/1849 (Estonian)
HGVS:: NC_000010.11:g.132337784A>C, NC_000010.11:g.132337784A>G, NC_000010.11:g.132337784A>T, NC_000010.10:g.134151288A>C, NC_000010.10:g.134151288A>G, NC_000010.10:g.134151288A>T

Select item 226078013.

rs2260780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:132342512 (GRCh38)
10:134156016 (GRCh37)
Canonical SPDI:: NC_000010.11:132342511:C:T
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.182054/3439 (ALFA)
T=0.00463/1 (Vietnamese)
T=0.079325/397 (1000Genomes)
T=0.1/4 (GENOME_DK)
T=0.153583/40652 (TOPMED)
T=0.156247/21898 (GnomAD)
T=0.171296/37 (Qatari)
T=0.173333/104 (NorthernSweden)
T=0.182366/817 (Estonian)
T=0.231122/857 (TWINSUK)
T=0.231448/892 (ALSPAC)
T=0.238477/238 (GoNL)
C=0.333333/4 (Siberian)
C=0.4375/35 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132342512C>T, NC_000010.10:g.134156016C>T

Select item 226087614.

rs2260876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:132344812 (GRCh38)
10:134158316 (GRCh37)
Canonical SPDI:: NC_000010.11:132344811:A:C,NC_000010.11:132344811:A:T
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.360293/8366 (ALFA)
C=0.024345/13 (MGP)
C=0.325734/1631 (1000Genomes)
C=0.351667/211 (NorthernSweden)
C=0.35514/76 (Vietnamese)
C=0.367675/97320 (TOPMED)
C=0.370295/51865 (GnomAD)
C=0.373679/707 (HapMap)
C=0.375/15 (GENOME_DK)
A=0.375/9 (Siberian)
C=0.383618/1124 (KOREAN)
C=0.393358/1516 (ALSPAC)
C=0.397249/1473 (TWINSUK)
C=0.400655/734 (Korea1K)
C=0.40424/6775 (TOMMO)
C=0.407407/88 (Qatari)
C=0.410822/410 (GoNL)
C=0.412277/1847 (Estonian)
A=0.419231/109 (SGDP_PRJ)
HGVS:: NC_000010.11:g.132344812A>C, NC_000010.11:g.132344812A>T, NC_000010.10:g.134158316A>C, NC_000010.10:g.134158316A>T

Select item 226122215.

rs2261222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:132351787 (GRCh38)
10:134165291 (GRCh37)
Canonical SPDI:: NC_000010.11:132351786:C:A,NC_000010.11:132351786:C:G,NC_000010.11:132351786:C:T
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/1 (ALFA)
T=0./0 (KOREAN)
C=0.14083/258 (Korea1K)
C=0.151649/2541 (TOMMO)
C=0.171053/91 (SGDP_PRJ)
C=0.192308/10 (Siberian)
C=0.198626/995 (1000Genomes)
C=0.208333/45 (Qatari)
C=0.221848/58721 (TOPMED)
C=0.226324/26340 (ExAC)
C=0.230627/2994 (GoESP)
C=0.233553/71 (FINRISK)
C=0.236667/142 (NorthernSweden)
C=0.246652/1105 (Estonian)
C=0.24987/963 (ALSPAC)
C=0.25/10 (GENOME_DK)
C=0.252505/252 (GoNL)
C=0.254315/943 (TWINSUK)
G=0.428839/229 (MGP)
HGVS:: NC_000010.11:g.132351787C>A, NC_000010.11:g.132351787C>G, NC_000010.11:g.132351787C>T, NC_000010.10:g.134165291C>A, NC_000010.10:g.134165291C>G, NC_000010.10:g.134165291C>T

Select item 227327816.

rs2273278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:132344684 (GRCh38)
10:134158188 (GRCh37)
Canonical SPDI:: NC_000010.11:132344683:A:G
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000024/6 (GnomAD_exomes)
G=0.000033/4 (ExAC)
G=0.000212/4 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.132344684A>G, NC_000010.10:g.134158188A>G

Select item 227327917.

rs2273279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:132342442 (GRCh38)
10:134155946 (GRCh37)
Canonical SPDI:: NC_000010.11:132342441:G:A
Gene:: LRRC27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000427/6 (ALFA)
A=0./0 (HapMap)
A=0.000546/1 (Korea1K)
A=0.000549/77 (GnomAD)
A=0.00062/164 (TOPMED)
A=0.000625/3 (1000Genomes)
A=0.001592/27 (TOMMO)
A=0.001667/1 (NorthernSweden)
A=0.001711/5 (KOREAN)
HGVS:: NC_000010.11:g.132342442G>A, NC_000010.10:g.134155946G>A

Select item 229527318.

rs2295273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:132337416 (GRCh38)
10:134150920 (GRCh37)
Canonical SPDI:: NC_000010.11:132337415:T:G
Gene:: LRRC27 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.119287/27536 (ALFA)
G=0.001873/1 (MGP)
G=0.041667/9 (Qatari)
G=0.105864/408 (ALSPAC)
G=0.105987/393 (TWINSUK)
G=0.113226/113 (GoNL)
G=0.124466/32945 (TOPMED)
G=0.126526/17742 (GnomAD)
G=0.141667/85 (NorthernSweden)
G=0.150899/11797 (PAGE_STUDY)
G=0.152717/765 (1000Genomes)
G=0.175/7 (GENOME_DK)
G=0.179894/340 (HapMap)
G=0.195312/875 (Estonian)
G=0.353093/274 (PRJEB37584)
G=0.364486/78 (Vietnamese)
G=0.382935/1122 (KOREAN)
G=0.399037/6688 (TOMMO)
G=0.400655/734 (Korea1K)
T=0.466667/56 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000010.11:g.132337416T>G, NC_000010.10:g.134150920T>G, XM_011540210.4:c.-177T>G, XM_011540210.3:c.-177T>G, XM_011540210.2:c.-177T>G, XM_011540210.1:c.-177T>G, NM_001309474.2:c.-177T>G, NM_001309474.1:c.-177T>G, NR_026559.1:n.311T>G

Select item 247432719.

rs2474327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:132354332 (GRCh38)
10:134167836 (GRCh37)
Canonical SPDI:: NC_000010.11:132354331:G:A,NC_000010.11:132354331:G:C
Gene:: LRRC27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.402276/7599 (ALFA)
A=0.344785/1727 (1000Genomes)
A=0.36/216 (NorthernSweden)
A=0.366667/77 (Vietnamese)
A=0.375/15 (GENOME_DK)
G=0.375/9 (Siberian)
A=0.384129/101675 (TOPMED)
A=0.386348/1132 (KOREAN)
A=0.387288/54249 (GnomAD)
A=0.398648/6681 (TOMMO)
A=0.400109/733 (Korea1K)
G=0.408088/111 (SGDP_PRJ)
A=0.408147/1573 (ALSPAC)
A=0.410194/1521 (TWINSUK)
A=0.42986/429 (GoNL)
A=0.433482/1942 (Estonian)
A=0.458333/99 (Qatari)
HGVS:: NC_000010.11:g.132354332G>A, NC_000010.11:g.132354332G>C, NC_000010.10:g.134167836G>A, NC_000010.10:g.134167836G>C

Select item 247432820.

rs2474328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:132348129 (GRCh38)
10:134161633 (GRCh37)
Canonical SPDI:: NC_000010.11:132348128:A:C,NC_000010.11:132348128:A:G,NC_000010.11:132348128:A:T
Gene:: LRRC27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.227904/13713 (ALFA)
A=0.14071/412 (KOREAN)
A=0.14083/258 (Korea1K)
A=0.141694/87 (Vietnamese)
A=0.142857/76 (SGDP_PRJ)
A=0.151826/2545 (TOMMO)
A=0.153029/766 (1000Genomes)
A=0.174922/46300 (TOPMED)
A=0.180955/25355 (GnomAD)
A=0.183531/2387 (GoESP)
A=0.192308/10 (Siberian)
A=0.203704/44 (Qatari)
A=0.214338/53849 (GnomAD_exomes)
A=0.214427/25998 (ExAC)
A=0.233553/71 (FINRISK)
A=0.235294/16 (PRJEB36033)
A=0.236667/142 (NorthernSweden)
A=0.246429/1104 (Estonian)
A=0.249611/962 (ALSPAC)
A=0.25/10 (GENOME_DK)
A=0.250501/250 (GoNL)
A=0.254585/944 (TWINSUK)
A=0.262172/140 (MGP)
HGVS:: NC_000010.11:g.132348129A>C, NC_000010.11:g.132348129A>G, NC_000010.11:g.132348129A>T, NC_000010.10:g.134161633A>C, NC_000010.10:g.134161633A>G, NC_000010.10:g.134161633A>T, XM_011540210.4:c.318A>C, XM_011540210.4:c.318A>G, XM_011540210.4:c.318A>T, XM_011540210.3:c.318A>C, XM_011540210.3:c.318A>G, XM_011540210.3:c.318A>T, XM_011540210.2:c.318A>C, XM_011540210.2:c.318A>G, XM_011540210.2:c.318A>T, XM_011540210.1:c.318A>C, XM_011540210.1:c.318A>G, XM_011540210.1:c.318A>T, XM_006717984.4:c.699A>C, XM_006717984.4:c.699A>G, XM_006717984.4:c.699A>T, XM_006717984.3:c.699A>C, XM_006717984.3:c.699A>G, XM_006717984.3:c.699A>T, XM_006717984.2:c.699A>C, XM_006717984.2:c.699A>G, XM_006717984.2:c.699A>T, XM_006717984.1:c.699A>C, XM_006717984.1:c.699A>G, XM_006717984.1:c.699A>T, NM_030626.3:c.699A>C, NM_030626.3:c.699A>G, NM_030626.3:c.699A>T, NM_030626.2:c.699A>C, NM_030626.2:c.699A>G, NM_030626.2:c.699A>T, XM_011540209.3:c.699A>C, XM_011540209.3:c.699A>G, XM_011540209.3:c.699A>T, XM_011540209.2:c.699A>C, XM_011540209.2:c.699A>G, XM_011540209.2:c.699A>T, XM_011540209.1:c.699A>C, XM_011540209.1:c.699A>G, XM_011540209.1:c.699A>T, XR_001747213.3:n.811A>C, XR_001747213.3:n.811A>G, XR_001747213.3:n.811A>T, XR_001747213.2:n.840A>C, XR_001747213.2:n.840A>G, XR_001747213.2:n.840A>T, XR_001747213.1:n.894A>C, XR_001747213.1:n.894A>G, XR_001747213.1:n.894A>T, XM_017016690.3:c.699A>C, XM_017016690.3:c.699A>G, XM_017016690.3:c.699A>T, XM_017016690.2:c.699A>C, XM_017016690.2:c.699A>G, XM_017016690.2:c.699A>T, XM_017016690.1:c.699A>C, XM_017016690.1:c.699A>G, XM_017016690.1:c.699A>T, XM_017016693.3:c.699A>C, XM_017016693.3:c.699A>G, XM_017016693.3:c.699A>T, XM_017016693.2:c.699A>C, XM_017016693.2:c.699A>G, XM_017016693.2:c.699A>T, XM_017016693.1:c.699A>C, XM_017016693.1:c.699A>G, XM_017016693.1:c.699A>T, XM_017016692.3:c.699A>C, XM_017016692.3:c.699A>G, XM_017016692.3:c.699A>T, XM_017016692.2:c.699A>C, XM_017016692.2:c.699A>G, XM_017016692.2:c.699A>T, XM_017016692.1:c.699A>C, XM_017016692.1:c.699A>G, XM_017016692.1:c.699A>T, XM_017016691.3:c.699A>C, XM_017016691.3:c.699A>G, XM_017016691.3:c.699A>T, XM_017016691.2:c.699A>C, XM_017016691.2:c.699A>G, XM_017016691.2:c.699A>T, XM_017016691.1:c.699A>C, XM_017016691.1:c.699A>G, XM_017016691.1:c.699A>T, NM_001143757.2:c.699A>C, NM_001143757.2:c.699A>G, NM_001143757.2:c.699A>T, NM_001143757.1:c.699A>C, NM_001143757.1:c.699A>G, NM_001143757.1:c.699A>T, XM_011540208.2:c.699A>C, XM_011540208.2:c.699A>G, XM_011540208.2:c.699A>T, XM_011540208.1:c.699A>C, XM_011540208.1:c.699A>G, XM_011540208.1:c.699A>T, XM_024448208.2:c.699A>C, XM_024448208.2:c.699A>G, XM_024448208.2:c.699A>T, XM_024448208.1:c.699A>C, XM_024448208.1:c.699A>G, XM_024448208.1:c.699A>T, NM_001143759.2:c.699A>C, NM_001143759.2:c.699A>G, NM_001143759.2:c.699A>T, NM_001143759.1:c.699A>C, NM_001143759.1:c.699A>G, NM_001143759.1:c.699A>T, NM_001143758.2:c.699A>C, NM_001143758.2:c.699A>G, NM_001143758.2:c.699A>T, NM_001143758.1:c.699A>C, NM_001143758.1:c.699A>G, NM_001143758.1:c.699A>T, NM_001309474.2:c.318A>C, NM_001309474.2:c.318A>G, NM_001309474.2:c.318A>T, NM_001309474.1:c.318A>C, NM_001309474.1:c.318A>G, NM_001309474.1:c.318A>T, XM_047425785.1:c.699A>C, XM_047425785.1:c.699A>G, XM_047425785.1:c.699A>T, XM_047425786.1:c.699A>C, XM_047425786.1:c.699A>G, XM_047425786.1:c.699A>T, XM_047425787.1:c.699A>C, XM_047425787.1:c.699A>G, XM_047425787.1:c.699A>T, XM_047425788.1:c.699A>C, XM_047425788.1:c.699A>G, XM_047425788.1:c.699A>T, XM_047425791.1:c.699A>C, XM_047425791.1:c.699A>G, XM_047425791.1:c.699A>T, XM_047425794.1:c.699A>C, XM_047425794.1:c.699A>G, XM_047425794.1:c.699A>T, XM_047425792.1:c.699A>C, XM_047425792.1:c.699A>G, XM_047425792.1:c.699A>T, XM_047425790.1:c.699A>C, XM_047425790.1:c.699A>G, XM_047425790.1:c.699A>T, XM_047425789.1:c.699A>C, XM_047425789.1:c.699A>G, XM_047425789.1:c.699A>T, NR_026559.1:n.805A>C, NR_026559.1:n.805A>G, NR_026559.1:n.805A>T, XM_047425793.1:c.699A>C, XM_047425793.1:c.699A>G, XM_047425793.1:c.699A>T

<< First< Prev

Page of 1184

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 23678

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity