KLHDC7B - SNP

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Select item 1317781.

rs131778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:50550897 (GRCh38)
22:50989326 (GRCh37)
Canonical SPDI:: NC_000022.11:50550896:A:G,NC_000022.11:50550896:A:T
Gene:: KLHDC7B (Varview), SYCE3 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.496113/71212 (ALFA)
A=0.318605/137 (SGDP_PRJ)
A=0.378505/81 (Vietnamese)
A=0.380989/6385 (TOMMO)
A=0.386689/1133 (KOREAN)
A=0.403384/739 (Korea1K)
G=0.407407/88 (Qatari)
A=0.409091/18 (Siberian)
A=0.460938/2065 (Estonian)
A=0.471944/471 (GoNL)
G=0.475/19 (GENOME_DK)
G=0.475655/254 (MGP)
G=0.478261/44 (PRJEB36033)
A=0.485/291 (NorthernSweden)
A=0.487805/160 (HapMap)
A=0.488943/1813 (TWINSUK)
G=0.492259/130296 (TOPMED)
A=0.496886/1915 (ALSPAC)
G=0.497814/2493 (1000Genomes)
G=0.49865/69788 (GnomAD)
HGVS:: NC_000022.11:g.50550897A>G, NC_000022.11:g.50550897A>T, NC_000022.10:g.50989326A>G, NC_000022.10:g.50989326A>T, NM_138433.5:c.*946A>G, NM_138433.5:c.*946A>T, NM_138433.4:c.*946A>G, NM_138433.4:c.*946A>T, NM_138433.3:c.*946A>G, NM_138433.3:c.*946A>T

Select item 1317792.

rs131779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 22:50549764 (GRCh38)
22:50988193 (GRCh37)
Canonical SPDI:: NC_000022.11:50549763:A:C,NC_000022.11:50549763:A:G,NC_000022.11:50549763:A:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.357702/59910 (ALFA)
G=0.054307/29 (MGP)
A=0.274468/129 (SGDP_PRJ)
A=0.288462/15 (Siberian)
A=0.295221/1322 (Estonian)
A=0.312/78 (FINRISK)
A=0.333873/1238 (TWINSUK)
A=0.346667/208 (NorthernSweden)
A=0.352884/35913 (ExAC)
A=0.355798/48195 (GnomAD)
A=0.359626/1386 (ALSPAC)
A=0.366935/273 (PRJEB37584)
A=0.372994/83705 (GnomAD_exomes)
A=0.375/15 (GENOME_DK)
A=0.37572/783 (HGDP_Stanford)
A=0.376026/4856 (GoESP)
A=0.377059/6318 (TOMMO)
A=0.382615/1118 (KOREAN)
A=0.384401/101747 (TOPMED)
A=0.397926/729 (Korea1K)
A=0.412037/89 (Qatari)
A=0.416667/30 (PRJEB36033)
A=0.419269/2100 (1000Genomes)
A=0.421925/789 (HapMap)
HGVS:: NC_000022.11:g.50549764A>C, NC_000022.11:g.50549764A>G, NC_000022.11:g.50549764A>T, NC_000022.10:g.50988193A>C, NC_000022.10:g.50988193A>G, NC_000022.10:g.50988193A>T, NM_138433.5:c.3521A>C, NM_138433.5:c.3521A>G, NM_138433.5:c.3521A>T, NM_138433.4:c.3521A>C, NM_138433.4:c.3521A>G, NM_138433.4:c.3521A>T, NM_138433.3:c.1598A>C, NM_138433.3:c.1598A>G, NM_138433.3:c.1598A>T, NP_612442.3:p.His1174Pro, NP_612442.3:p.His1174Arg, NP_612442.3:p.His1174Leu

Select item 1317803.

rs131780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:50544110 (GRCh38)
22:50982539 (GRCh37)
Canonical SPDI:: NC_000022.11:50544109:C:A,NC_000022.11:50544109:C:G
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.223187/4216 (ALFA)
G=0.157407/34 (Qatari)
G=0.198821/52626 (TOPMED)
G=0.20269/28396 (GnomAD)
G=0.223298/1118 (1000Genomes)
G=0.234812/688 (KOREAN)
G=0.237158/434 (Korea1K)
G=0.243046/4073 (TOMMO)
G=0.243124/937 (ALSPAC)
G=0.248333/149 (NorthernSweden)
G=0.252427/936 (TWINSUK)
G=0.256696/1150 (Estonian)
G=0.275/11 (GENOME_DK)
C=0.39/78 (SGDP_PRJ)
C=0.4375/14 (Siberian)
HGVS:: NC_000022.11:g.50544110C>A, NC_000022.11:g.50544110C>G, NC_000022.10:g.50982539C>A, NC_000022.10:g.50982539C>G, XR_938356.3:n.210G>T, XR_938356.3:n.210G>C, XR_938356.2:n.669G>T, XR_938356.2:n.669G>C, XR_938356.1:n.152G>T, XR_938356.1:n.152G>C

Select item 1317814.

rs131781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50544028 (GRCh38)
22:50982457 (GRCh37)
Canonical SPDI:: NC_000022.11:50544027:G:A,NC_000022.11:50544027:G:C
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.414935/7468 (ALFA)
G=0.272093/117 (SGDP_PRJ)
G=0.309375/1386 (Estonian)
G=0.326923/17 (Siberian)
G=0.356257/1321 (TWINSUK)
G=0.365/219 (NorthernSweden)
G=0.375/15 (GENOME_DK)
G=0.378568/1459 (ALSPAC)
G=0.388936/6519 (TOMMO)
G=0.391052/1145 (KOREAN)
G=0.405049/738 (Korea1K)
G=0.425926/92 (Qatari)
G=0.449839/62694 (GnomAD)
G=0.468733/124069 (TOPMED)
A=0.485946/2434 (1000Genomes)
HGVS:: NC_000022.11:g.50544028G>A, NC_000022.11:g.50544028G>C, NC_000022.10:g.50982457G>A, NC_000022.10:g.50982457G>C

Select item 1405195.

rs140519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:50549633 (GRCh38)
22:50988062 (GRCh37)
Canonical SPDI:: NC_000022.11:50549632:G:C,NC_000022.11:50549632:G:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.462826/79969 (ALFA)
T=0.337963/73 (Qatari)
G=0.341398/127 (SGDP_PRJ)
T=0.366003/28781 (PAGE_STUDY)
G=0.382353/286 (PRJEB37584)
T=0.384656/727 (HapMap)
G=0.385372/6456 (TOMMO)
T=0.389513/208 (MGP)
G=0.396175/1160 (KOREAN)
T=0.396401/5154 (GoESP)
T=0.400219/2004 (1000Genomes)
T=0.403136/106706 (TOPMED)
T=0.412633/57776 (GnomAD)
G=0.418785/758 (Korea1K)
G=0.424528/90 (Vietnamese)
T=0.425/17 (GENOME_DK)
G=0.428571/18 (Siberian)
G=0.430921/131 (FINRISK)
T=0.473015/1823 (ALSPAC)
T=0.477209/52032 (ExAC)
T=0.478105/99946 (GnomAD_exomes)
G=0.480357/2152 (Estonian)
T=0.481392/1785 (TWINSUK)
T=0.486667/292 (NorthernSweden)
HGVS:: NC_000022.11:g.50549633G>C, NC_000022.11:g.50549633G>T, NC_000022.10:g.50988062G>C, NC_000022.10:g.50988062G>T, NM_138433.5:c.3390G>C, NM_138433.5:c.3390G>T, NM_138433.4:c.3390G>C, NM_138433.4:c.3390G>T, NM_138433.3:c.1467G>C, NM_138433.3:c.1467G>T

PubMed LitVar

Select item 1405206.

rs140520 [Homo sapiens]

Variant type:: DEL
Alleles:: TGGTGGGGT>- [Show Flanks]
Chromosome:: 22:50545988 (GRCh38)
22:50984417 (GRCh37)
Canonical SPDI:: NC_000022.11:50545987:TGGTGGGGT:
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.422278/5933 (ALFA)
TGGTGGGGT=0.381795/6397 (TOMMO)
TGGTGGGGT=0.397926/729 (Korea1K)
TGGTGGGGT=0.40566/86 (Vietnamese)
-=0.406347/107556 (TOPMED)
-=0.414058/57786 (GnomAD)
-=0.420527/2106 (1000Genomes)
-=0.45/18 (GENOME_DK)
-=0.464193/1789 (ALSPAC)
-=0.47384/1757 (TWINSUK)
TGGTGGGGT=0.480563/2151 (Estonian)
-=0.491667/295 (NorthernSweden)
-=0.495992/495 (GoNL)
HGVS:: NC_000022.11:g.50545988_50545996del, NC_000022.10:g.50984417_50984425del, NM_138433.5:c.-256_-248del

Select item 7389387.

rs738938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 22:50545574 (GRCh38)
22:50984003 (GRCh37)
Canonical SPDI:: NC_000022.11:50545573:A:C,NC_000022.11:50545573:A:G,NC_000022.11:50545573:A:T
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.175159/3630 (ALFA)
A=0.004762/1 (Vietnamese)
A=0.018771/55 (KOREAN)
A=0.023533/394 (TOMMO)
A=0.027293/50 (Korea1K)
A=0.053571/3 (Siberian)
A=0.075/3 (GENOME_DK)
A=0.084249/46 (SGDP_PRJ)
A=0.093691/469 (1000Genomes)
A=0.156338/41381 (TOPMED)
A=0.160135/22369 (GnomAD)
A=0.17433/781 (Estonian)
A=0.211667/127 (NorthernSweden)
A=0.218437/218 (GoNL)
A=0.237594/881 (TWINSUK)
A=0.24537/53 (Qatari)
A=0.25013/964 (ALSPAC)
HGVS:: NC_000022.11:g.50545574A>C, NC_000022.11:g.50545574A>G, NC_000022.11:g.50545574A>T, NC_000022.10:g.50984003A>C, NC_000022.10:g.50984003A>G, NC_000022.10:g.50984003A>T

Select item 37523978.

rs3752397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50545122 (GRCh38)
22:50983551 (GRCh37)
Canonical SPDI:: NC_000022.11:50545121:T:C
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.04955/936 (ALFA)
C=0./0 (HapMap)
C=0.027778/6 (Qatari)
C=0.047195/175 (TWINSUK)
C=0.049117/6887 (GnomAD)
C=0.05/2 (GENOME_DK)
C=0.051339/230 (Estonian)
C=0.051894/200 (ALSPAC)
C=0.057735/15282 (TOPMED)
C=0.059118/59 (GoNL)
C=0.075/45 (NorthernSweden)
C=0.095294/7480 (PAGE_STUDY)
C=0.125234/627 (1000Genomes)
C=0.224573/658 (KOREAN)
C=0.229258/420 (Korea1K)
C=0.233527/3914 (TOMMO)
C=0.310185/67 (Vietnamese)
T=0.396825/50 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000022.11:g.50545122T>C, NC_000022.10:g.50983551T>C

Select item 45758199.

rs4575819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50547931 (GRCh38)
22:50986360 (GRCh37)
Canonical SPDI:: NC_000022.11:50547930:T:C
Gene:: KLHDC7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.41958/4977 (ALFA)
C=0.00589/44 (TOMMO)
C=0.04214/635 (GnomAD)
T=0.20115/70 (SGDP_PRJ)
T=0.30856/822 (KOREAN)
C=0.43056/93 (Qatari)
T=0.4385/2196 (1000Genomes)
T=0.5/4 (Siberian)
HGVS:: NC_000022.11:g.50547931T>C, NC_000022.10:g.50986360T>C, NM_138433.5:c.1688T>C, NM_138433.4:c.1688T>C, NP_612442.3:p.Leu563Pro

Select item 577077510.

rs5770775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:50545626 (GRCh38)
22:50984055 (GRCh37)
Canonical SPDI:: NC_000022.11:50545625:T:A,NC_000022.11:50545625:T:C
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.27683/55510 (ALFA)
C=0.225/18 (PRJEB36033)
C=0.241667/145 (NorthernSweden)
C=0.243383/938 (ALSPAC)
C=0.251079/931 (TWINSUK)
C=0.251503/251 (GoNL)
C=0.272666/1221 (Estonian)
C=0.319444/69 (Qatari)
T=0.333333/14 (Siberian)
T=0.344633/122 (SGDP_PRJ)
C=0.365088/50986 (GnomAD)
C=0.366082/6136 (TOMMO)
C=0.375/1098 (KOREAN)
C=0.381794/101057 (TOPMED)
C=0.383734/703 (Korea1K)
C=0.4/16 (GENOME_DK)
C=0.4125/858 (HGDP_Stanford)
C=0.448938/2248 (1000Genomes)
C=0.458157/865 (HapMap)
HGVS:: NC_000022.11:g.50545626T>A, NC_000022.11:g.50545626T>C, NC_000022.10:g.50984055T>A, NC_000022.10:g.50984055T>C

Select item 577087811.

rs5770878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50544557 (GRCh38)
22:50982986 (GRCh37)
Canonical SPDI:: NC_000022.11:50544556:C:G,NC_000022.11:50544556:C:T
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.166794/2183 (ALFA)
G=0.222222/48 (Qatari)
G=0.291369/40847 (GnomAD)
G=0.294458/77940 (TOPMED)
G=0.306954/1183 (ALSPAC)
G=0.311758/1156 (TWINSUK)
G=0.318304/1426 (Estonian)
G=0.318333/191 (NorthernSweden)
G=0.330661/330 (GoNL)
G=0.346658/1736 (1000Genomes)
C=0.357639/103 (SGDP_PRJ)
G=0.373947/6267 (TOMMO)
G=0.382594/1121 (KOREAN)
G=0.383178/82 (Vietnamese)
G=0.389738/714 (Korea1K)
C=0.404762/17 (Siberian)
G=0.45/18 (GENOME_DK)
HGVS:: NC_000022.11:g.50544557C>G, NC_000022.11:g.50544557C>T, NC_000022.10:g.50982986C>G, NC_000022.10:g.50982986C>T, NG_081195.1:g.438C>G, NG_081195.1:g.438C>T

Select item 577088112.

rs5770881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:50546840 (GRCh38)
22:50985269 (GRCh37)
Canonical SPDI:: NC_000022.11:50546839:T:A,NC_000022.11:50546839:T:C
Gene:: KLHDC7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.116287/12095 (ALFA)
C=0.068333/41 (NorthernSweden)
C=0.071467/265 (TWINSUK)
C=0.077322/298 (ALSPAC)
C=0.087054/390 (Estonian)
C=0.092593/20 (Qatari)
C=0.2/8 (GENOME_DK)
C=0.202199/28286 (GnomAD)
C=0.224444/59408 (TOPMED)
C=0.3025/484 (HapMap)
C=0.323079/1618 (1000Genomes)
C=0.357143/75 (Vietnamese)
C=0.359535/6020 (TOMMO)
C=0.372165/1083 (KOREAN)
C=0.372881/660 (Korea1K)
T=0.392857/11 (Siberian)
T=0.394309/97 (SGDP_PRJ)
HGVS:: NC_000022.11:g.50546840T>A, NC_000022.11:g.50546840T>C, NC_000022.10:g.50985269T>A, NC_000022.10:g.50985269T>C, NM_138433.5:c.597T>A, NM_138433.5:c.597T>C, NM_138433.4:c.597T>A, NM_138433.4:c.597T>C

Select item 577088213.

rs5770882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 22:50547274 (GRCh38)
22:50985703 (GRCh37)
Canonical SPDI:: NC_000022.11:50547273:A:C,NC_000022.11:50547273:A:G,NC_000022.11:50547273:A:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.019191/56 (KOREAN)
A=0.022991/385 (TOMMO)
A=0.08/4 (Siberian)
A=0.10219/56 (SGDP_PRJ)
A=0.123829/620 (1000Genomes)
A=0.193487/51214 (TOPMED)
A=0.198273/27690 (GnomAD)
A=0.2/8 (GENOME_DK)
A=0.214381/960 (Estonian)
A=0.273193/1013 (TWINSUK)
A=0.28905/1114 (ALSPAC)
A=0.29/174 (NorthernSweden)
A=0.291667/63 (Qatari)
HGVS:: NC_000022.11:g.50547274A>C, NC_000022.11:g.50547274A>G, NC_000022.11:g.50547274A>T, NC_000022.10:g.50985703A>C, NC_000022.10:g.50985703A>G, NC_000022.10:g.50985703A>T, NM_138433.5:c.1031A>C, NM_138433.5:c.1031A>G, NM_138433.5:c.1031A>T, NM_138433.4:c.1031A>C, NM_138433.4:c.1031A>G, NM_138433.4:c.1031A>T, NP_612442.3:p.Asp344Ala, NP_612442.3:p.Asp344Gly, NP_612442.3:p.Asp344Val

Select item 577088314.

rs5770883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50547303 (GRCh38)
22:50985732 (GRCh37)
Canonical SPDI:: NC_000022.11:50547302:C:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.092635/1547 (ALFA)
T=0.055556/12 (Qatari)
T=0.068333/41 (NorthernSweden)
T=0.074434/276 (TWINSUK)
T=0.080955/312 (ALSPAC)
T=0.089063/399 (Estonian)
T=0.09622/13455 (GnomAD)
T=0.112214/29702 (TOPMED)
T=0.2/8 (GENOME_DK)
T=0.210337/1053 (1000Genomes)
T=0.331776/71 (Vietnamese)
T=0.350308/5868 (TOMMO)
T=0.356357/1037 (KOREAN)
T=0.364407/645 (Korea1K)
C=0.401961/82 (SGDP_PRJ)
C=0.423077/11 (Siberian)
HGVS:: NC_000022.11:g.50547303C>T, NC_000022.10:g.50985732C>T, NM_138433.5:c.1060C>T, NM_138433.4:c.1060C>T, NP_612442.3:p.Pro354Ser

Select item 577088515.

rs5770885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 22:50547950 (GRCh38)
22:50986379 (GRCh37)
Canonical SPDI:: NC_000022.11:50547949:A:C,NC_000022.11:50547949:A:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0001/2 (GnomAD)
T=0.00066/9 (TOMMO)
T=0.00364/2 (NorthernSweden)
T=0.1215/26 (Qatari)
T=0.15919/419 (KOREAN)
A=0.36/18 (SGDP_PRJ)
HGVS:: NC_000022.11:g.50547950A>C, NC_000022.11:g.50547950A>T, NC_000022.10:g.50986379A>C, NC_000022.10:g.50986379A>T, NM_138433.5:c.1707A>C, NM_138433.5:c.1707A>T, NM_138433.4:c.1707A>C, NM_138433.4:c.1707A>T

Select item 577088616.

rs5770886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50548858 (GRCh38)
22:50987287 (GRCh37)
Canonical SPDI:: NC_000022.11:50548857:A:G
Gene:: KLHDC7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.20735/28735 (ALFA)
G=0.171667/103 (NorthernSweden)
G=0.182848/678 (TWINSUK)
G=0.189154/729 (ALSPAC)
G=0.209375/938 (Estonian)
G=0.222222/48 (Qatari)
G=0.244349/2724 (GoESP)
G=0.291443/44160 (GnomAD_exomes)
G=0.309733/43349 (GnomAD)
G=0.325/13 (GENOME_DK)
G=0.333228/88202 (TOPMED)
G=0.345794/74 (Vietnamese)
A=0.346875/111 (SGDP_PRJ)
G=0.386644/1129 (KOREAN)
G=0.390415/6542 (TOMMO)
G=0.396843/704 (Korea1K)
G=0.401824/749 (HapMap)
G=0.418923/9440 (ExAC)
G=0.42208/2114 (1000Genomes)
A=0.444444/16 (Siberian)
HGVS:: NC_000022.11:g.50548858A>G, NC_000022.10:g.50987287A>G, NM_138433.5:c.2615A>G, NM_138433.4:c.2615A>G, NM_138433.3:c.692A>G, NP_612442.3:p.Gln872Arg

Select item 577088717.

rs5770887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50550266 (GRCh38)
22:50988695 (GRCh37)
Canonical SPDI:: NC_000022.11:50550265:T:C
Gene:: KLHDC7B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172203/5277 (ALFA)
C=0.039326/21 (MGP)
C=0.143287/143 (GoNL)
C=0.153333/92 (NorthernSweden)
C=0.154531/573 (TWINSUK)
C=0.157407/34 (Qatari)
C=0.159834/616 (ALSPAC)
C=0.160938/721 (Estonian)
C=0.206706/28938 (GnomAD)
C=0.214882/56877 (TOPMED)
C=0.225/9 (GENOME_DK)
C=0.234624/3932 (TOMMO)
C=0.237543/696 (KOREAN)
C=0.246179/451 (Korea1K)
C=0.266708/1336 (1000Genomes)
C=0.319444/69 (Vietnamese)
T=0.380165/92 (SGDP_PRJ)
T=0.466667/14 (Siberian)
HGVS:: NC_000022.11:g.50550266T>C, NC_000022.10:g.50988695T>C, NM_138433.5:c.*315T>C, NM_138433.4:c.*315T>C, NM_138433.3:c.*315T>C

Select item 600992018.

rs6009920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:50544903 (GRCh38)
22:50983332 (GRCh37)
Canonical SPDI:: NC_000022.11:50544902:C:G
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.149338/2821 (ALFA)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
G=0.00463/1 (Vietnamese)
G=0.089944/450 (1000Genomes)
G=0.125/75 (NorthernSweden)
G=0.130261/130 (GoNL)
G=0.133435/35319 (TOPMED)
G=0.134925/520 (ALSPAC)
G=0.138472/19411 (GnomAD)
G=0.148328/550 (TWINSUK)
G=0.1625/728 (Estonian)
G=0.194444/42 (Qatari)
G=0.2/8 (GENOME_DK)
C=0.46875/45 (SGDP_PRJ)
C=0.5/10 (Siberian)
HGVS:: NC_000022.11:g.50544903C>G, NC_000022.10:g.50983332C>G

Select item 600998619.

rs6009986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:50545507 (GRCh38)
22:50983936 (GRCh37)
Canonical SPDI:: NC_000022.11:50545506:A:C,NC_000022.11:50545506:A:G
Gene:: KLHDC7B (Varview), KLHDC7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.327176/6429 (ALFA)
G=0.00641/2 (HapMap)
G=0.090909/2 (PRJEB36033)
G=0.241667/145 (NorthernSweden)
G=0.241827/932 (ALSPAC)
G=0.25027/928 (TWINSUK)
G=0.250501/250 (GoNL)
G=0.273214/1224 (Estonian)
G=0.319444/69 (Qatari)
A=0.333333/14 (Siberian)
A=0.341808/121 (SGDP_PRJ)
G=0.364734/50954 (GnomAD)
G=0.366516/6143 (TOMMO)
G=0.375427/1100 (KOREAN)
G=0.381261/100916 (TOPMED)
G=0.384279/704 (Korea1K)
G=0.4/16 (GENOME_DK)
G=0.448001/2244 (1000Genomes)
G=0.472605/37177 (PAGE_STUDY)
HGVS:: NC_000022.11:g.50545507A>C, NC_000022.11:g.50545507A>G, NC_000022.10:g.50983936A>C, NC_000022.10:g.50983936A>G

Select item 600998720.

rs6009987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50547359 (GRCh38)
22:50985788 (GRCh37)
Canonical SPDI:: NC_000022.11:50547358:C:G,NC_000022.11:50547358:C:T
Gene:: KLHDC7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001741/32 (ALFA)
G=0.003333/2 (NorthernSweden)
G=0.005583/25 (Estonian)
G=0.021393/107 (1000Genomes)
G=0.021652/3027 (GnomAD)
G=0.05/2 (GENOME_DK)
C=0.409091/9 (SGDP_PRJ)
HGVS:: NC_000022.11:g.50547359C>G, NC_000022.11:g.50547359C>T, NC_000022.10:g.50985788C>G, NC_000022.10:g.50985788C>T, NM_138433.5:c.1116C>G, NM_138433.5:c.1116C>T, NM_138433.4:c.1116C>G, NM_138433.4:c.1116C>T

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