STRA6 - SNP

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Select item 109101.

rs10910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:74179858 (GRCh38)
15:74472199 (GRCh37)
Canonical SPDI:: NC_000015.10:74179857:C:G,NC_000015.10:74179857:C:T
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.313892/53228 (ALFA)
T=0.013109/7 (MGP)
C=0.234783/108 (SGDP_PRJ)
C=0.259259/14 (Siberian)
C=0.263889/57 (Qatari)
C=0.298651/1151 (ALSPAC)
C=0.313916/1164 (TWINSUK)
C=0.321643/321 (GoNL)
C=0.325/13 (GENOME_DK)
C=0.348333/209 (NorthernSweden)
C=0.379688/1701 (Estonian)
C=0.415068/6957 (TOMMO)
C=0.423549/1241 (KOREAN)
C=0.435026/115147 (TOPMED)
C=0.438935/61493 (GnomAD)
C=0.471268/2360 (1000Genomes)
T=0.481481/104 (Vietnamese)
T=0.498408/939 (HapMap)
HGVS:: NC_000015.10:g.74179858C>G, NC_000015.10:g.74179858C>T, NC_000015.9:g.74472199C>G, NC_000015.9:g.74472199C>T, NG_009207.1:g.34173G>C, NG_009207.1:g.34173G>A, NM_022369.4:c.*222G>C, NM_022369.4:c.*222G>A, NM_022369.3:c.*222G>C, NM_022369.3:c.*222G>A, NM_001199042.2:c.*222G>C, NM_001199042.2:c.*222G>A, NM_001199042.1:c.*222G>C, NM_001199042.1:c.*222G>A, NM_001199041.2:c.*222G>C, NM_001199041.2:c.*222G>A, NM_001199041.1:c.*222G>C, NM_001199041.1:c.*222G>A, NM_001199040.2:c.*222G>C, NM_001199040.2:c.*222G>A, NM_001199040.1:c.*222G>C, NM_001199040.1:c.*222G>A, NM_001142617.2:c.*222G>C, NM_001142617.2:c.*222G>A, NM_001142617.1:c.*222G>C, NM_001142617.1:c.*222G>A, NM_001142619.2:c.*222G>C, NM_001142619.2:c.*222G>A, NM_001142619.1:c.*222G>C, NM_001142619.1:c.*222G>A, NM_001142618.2:c.*222G>C, NM_001142618.2:c.*222G>A, NM_001142618.1:c.*222G>C, NM_001142618.1:c.*222G>A, NW_021160016.1:g.7283C>G, NW_021160016.1:g.7283C>T, XM_017022478.2:c.*222G>C, XM_017022478.2:c.*222G>A, XM_017022478.1:c.*222G>C, XM_017022478.1:c.*222G>A, XM_017022479.2:c.*222G>C, XM_017022479.2:c.*222G>A, XM_017022479.1:c.*222G>C, XM_017022479.1:c.*222G>A, XM_011521883.1:c.*222G>C, XM_011521883.1:c.*222G>A

PubMed LitVar

Select item 3512182.

rs351218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:74197542 (GRCh38)
15:74489883 (GRCh37)
Canonical SPDI:: NC_000015.10:74197541:A:C,NC_000015.10:74197541:A:G,NC_000015.10:74197541:A:T
Gene:: STRA6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
T=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (TWINSUK)
A=0./0 (Vietnamese)
A=0.001792/1 (SGDP_PRJ)
A=0.004519/634 (GnomAD)
A=0.00467/1236 (TOPMED)
A=0.004841/24 (1000Genomes)
A=0.006061/2 (HapMap)
A=0.013889/3 (Qatari)
G=0.037453/20 (MGP)
HGVS:: NC_000015.10:g.74197542A>C, NC_000015.10:g.74197542A>G, NC_000015.10:g.74197542A>T, NC_000015.9:g.74489883A>C, NC_000015.9:g.74489883A>G, NC_000015.9:g.74489883A>T, NG_009207.1:g.16489T>G, NG_009207.1:g.16489T>C, NG_009207.1:g.16489T>A, NW_021160016.1:g.24967A>C, NW_021160016.1:g.24967A>G, NW_021160016.1:g.24967A>T

Select item 3512213.

rs351221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:74208389 (GRCh38)
15:74500730 (GRCh37)
Canonical SPDI:: NC_000015.10:74208388:C:A,NC_000015.10:74208388:C:G,NC_000015.10:74208388:C:T
Gene:: STRA6 (Varview), CCDC33 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.009126/75 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (GENOME_DK)
G=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0./0 (TWINSUK)
C=0./0 (Vietnamese)
C=0.000223/1 (Estonian)
C=0.01083/6 (SGDP_PRJ)
C=0.027378/3838 (GnomAD)
C=0.028395/7516 (TOPMED)
C=0.031855/160 (1000Genomes)
C=0.032407/7 (Qatari)
HGVS:: NC_000015.10:g.74208389C>A, NC_000015.10:g.74208389C>G, NC_000015.10:g.74208389C>T, NC_000015.9:g.74500730C>A, NC_000015.9:g.74500730C>G, NC_000015.9:g.74500730C>T, NG_054754.1:g.10685C>A, NG_054754.1:g.10685C>G, NG_054754.1:g.10685C>T, NG_009207.1:g.5642G>T, NG_009207.1:g.5642G>C, NG_009207.1:g.5642G>A, NW_021160016.1:g.35814C>A, NW_021160016.1:g.35814C>G, NW_021160016.1:g.35814C>T

Select item 3512224.

rs351222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:74207615 (GRCh38)
15:74499956 (GRCh37)
Canonical SPDI:: NC_000015.10:74207614:G:A,NC_000015.10:74207614:G:C,NC_000015.10:74207614:G:T
Gene:: STRA6 (Varview), CCDC33 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.309756/127 (SGDP_PRJ)
G=0.318182/14 (Siberian)
C=0.332366/1489 (Estonian)
C=0.346818/1286 (TWINSUK)
C=0.35/14 (GENOME_DK)
C=0.354696/1367 (ALSPAC)
C=0.375752/375 (GoNL)
C=0.382075/81 (Vietnamese)
C=0.406782/107671 (TOPMED)
C=0.418333/251 (NorthernSweden)
C=0.428571/78 (HapMap)
G=0.440155/7377 (TOMMO)
G=0.441598/1293 (KOREAN)
G=0.449074/97 (Qatari)
G=0.466703/855 (Korea1K)
C=0.471893/2363 (1000Genomes)
HGVS:: NC_000015.10:g.74207615G>A, NC_000015.10:g.74207615G>C, NC_000015.10:g.74207615G>T, NC_000015.9:g.74499956G>A, NC_000015.9:g.74499956G>C, NC_000015.9:g.74499956G>T, NG_054754.1:g.9911G>A, NG_054754.1:g.9911G>C, NG_054754.1:g.9911G>T, NG_009207.1:g.6416C>T, NG_009207.1:g.6416C>G, NG_009207.1:g.6416C>A, NW_021160016.1:g.35040G>A, NW_021160016.1:g.35040G>C, NW_021160016.1:g.35040G>T

Select item 3512285.

rs351228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:74191074 (GRCh38)
15:74483415 (GRCh37)
Canonical SPDI:: NC_000015.10:74191073:T:A,NC_000015.10:74191073:T:C,NC_000015.10:74191073:T:G
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.012884/1833 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (Vietnamese)
T=0.000539/2 (TWINSUK)
T=0.000778/3 (ALSPAC)
T=0.001002/1 (GoNL)
T=0.012243/2268 (GnomAD_exomes)
T=0.012635/7 (SGDP_PRJ)
T=0.017218/910 (ExAC)
T=0.026217/14 (MGP)
T=0.046296/10 (Qatari)
T=0.05416/7589 (GnomAD)
T=0.055673/14736 (TOPMED)
T=0.060275/302 (1000Genomes)
T=0.142857/168 (HapMap)
HGVS:: NC_000015.10:g.74191074T>A, NC_000015.10:g.74191074T>C, NC_000015.10:g.74191074T>G, NC_000015.9:g.74483415T>A, NC_000015.9:g.74483415T>C, NC_000015.9:g.74483415T>G, NG_009207.1:g.22957A>T, NG_009207.1:g.22957A>G, NG_009207.1:g.22957A>C, NW_021160016.1:g.18499T>A, NW_021160016.1:g.18499T>C, NW_021160016.1:g.18499T>G

Select item 3512296.

rs351229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:74190679 (GRCh38)
15:74483020 (GRCh37)
Canonical SPDI:: NC_000015.10:74190678:G:T
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.140394/3110 (ALFA)
G=0.055556/4 (PRJEB36033)
G=0.086172/86 (GoNL)
G=0.095/57 (NorthernSweden)
G=0.096009/356 (TWINSUK)
G=0.096783/373 (ALSPAC)
G=0.1/4 (GENOME_DK)
G=0.101339/454 (Estonian)
G=0.111111/6 (Siberian)
G=0.168183/23552 (GnomAD)
G=0.179331/47467 (TOPMED)
G=0.180556/39 (Qatari)
G=0.185115/97 (SGDP_PRJ)
G=0.231766/483 (HGDP_Stanford)
G=0.250781/1256 (1000Genomes)
G=0.261628/495 (HapMap)
G=0.368601/1080 (KOREAN)
G=0.375/687 (Korea1K)
G=0.383495/79 (Vietnamese)
G=0.385767/6465 (TOMMO)
T=0.434457/232 (MGP)
HGVS:: NC_000015.10:g.74190679G>T, NC_000015.9:g.74483020G>T, NG_009207.1:g.23352C>A, NW_021160016.1:g.18104G>T

Select item 3512307.

rs351230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:74190656 (GRCh38)
15:74482997 (GRCh37)
Canonical SPDI:: NC_000015.10:74190655:A:G,NC_000015.10:74190655:A:T
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.121267/27561 (ALFA)
A=0.025641/2 (PRJEB36033)
A=0.086172/86 (GoNL)
A=0.092593/5 (Siberian)
A=0.095/57 (NorthernSweden)
A=0.095745/369 (ALSPAC)
A=0.096548/358 (TWINSUK)
A=0.101562/455 (Estonian)
A=0.123442/25315 (GENOGRAPHIC)
A=0.125/5 (GENOME_DK)
A=0.188716/97 (SGDP_PRJ)
A=0.196812/27560 (GnomAD)
A=0.208803/55268 (TOPMED)
A=0.212963/46 (Qatari)
G=0.235955/126 (MGP)
A=0.247601/516 (HGDP_Stanford)
A=0.275765/1381 (1000Genomes)
A=0.292743/23033 (PAGE_STUDY)
A=0.305497/578 (HapMap)
A=0.367918/1078 (KOREAN)
A=0.375/687 (Korea1K)
A=0.378173/298 (PRJEB37584)
A=0.378505/81 (Vietnamese)
A=0.385661/6464 (TOMMO)
HGVS:: NC_000015.10:g.74190656A>G, NC_000015.10:g.74190656A>T, NC_000015.9:g.74482997A>G, NC_000015.9:g.74482997A>T, NG_009207.1:g.23375T>C, NG_009207.1:g.23375T>A, NW_021160016.1:g.18081A>G, NW_021160016.1:g.18081A>T

Select item 3512378.

rs351237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74184898 (GRCh38)
15:74477239 (GRCh37)
Canonical SPDI:: NC_000015.10:74184897:G:A,NC_000015.10:74184897:G:C
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.401532/24218 (ALFA)
G=0.212121/14 (PRJEB36033)
G=0.276087/127 (SGDP_PRJ)
G=0.28/14 (Siberian)
G=0.319444/69 (Qatari)
A=0.331461/177 (MGP)
G=0.35/14 (GENOME_DK)
G=0.354177/1365 (ALSPAC)
G=0.358717/358 (GoNL)
G=0.369741/1371 (TWINSUK)
G=0.369877/1083 (KOREAN)
G=0.378275/693 (Korea1K)
G=0.385165/6455 (TOMMO)
G=0.38785/83 (Vietnamese)
G=0.387873/806 (HGDP_Stanford)
G=0.395/237 (NorthernSweden)
G=0.454688/2037 (Estonian)
G=0.471297/821 (HapMap)
G=0.472517/2366 (1000Genomes)
G=0.480713/127240 (TOPMED)
G=0.487143/68238 (GnomAD)
HGVS:: NC_000015.10:g.74184898G>A, NC_000015.10:g.74184898G>C, NC_000015.9:g.74477239G>A, NC_000015.9:g.74477239G>C, NG_009207.1:g.29133C>T, NG_009207.1:g.29133C>G, NW_021160016.1:g.12323G>A, NW_021160016.1:g.12323G>C

PubMed

Select item 3512389.

rs351238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74184875 (GRCh38)
15:74477216 (GRCh37)
Canonical SPDI:: NC_000015.10:74184874:G:A,NC_000015.10:74184874:G:C
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497489/10699 (ALFA)
A=0.013109/7 (MGP)
G=0.277293/127 (SGDP_PRJ)
G=0.28/14 (Siberian)
G=0.342593/74 (Qatari)
G=0.35/14 (GENOME_DK)
G=0.370219/1084 (KOREAN)
G=0.371303/1431 (ALSPAC)
G=0.37976/379 (GoNL)
G=0.379913/696 (Korea1K)
G=0.383765/1423 (TWINSUK)
G=0.385271/6457 (TOMMO)
G=0.38785/83 (Vietnamese)
G=0.403333/242 (NorthernSweden)
G=0.461161/2066 (Estonian)
A=0.466258/152 (HapMap)
A=0.489554/129580 (TOPMED)
G=0.496252/2485 (1000Genomes)
HGVS:: NC_000015.10:g.74184875G>A, NC_000015.10:g.74184875G>C, NC_000015.9:g.74477216G>A, NC_000015.9:g.74477216G>C, NG_009207.1:g.29156C>T, NG_009207.1:g.29156C>G, NW_021160016.1:g.12300G>A, NW_021160016.1:g.12300G>C

Select item 35123910.

rs351239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:74184289 (GRCh38)
15:74476630 (GRCh37)
Canonical SPDI:: NC_000015.10:74184288:A:C,NC_000015.10:74184288:A:T
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.019481/368 (ALFA)
A=0./0 (GENOME_DK)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (Vietnamese)
A=0.000341/1 (KOREAN)
A=0.000539/2 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.001002/1 (GoNL)
A=0.008961/5 (SGDP_PRJ)
A=0.037037/8 (Qatari)
A=0.038107/5345 (GnomAD)
A=0.039646/10494 (TOPMED)
A=0.043098/216 (1000Genomes)
A=0.04908/16 (HapMap)
HGVS:: NC_000015.10:g.74184289A>C, NC_000015.10:g.74184289A>T, NC_000015.9:g.74476630A>C, NC_000015.9:g.74476630A>T, NG_009207.1:g.29742T>G, NG_009207.1:g.29742T>A, NW_021160016.1:g.11714A>C, NW_021160016.1:g.11714A>T

Select item 35124111.

rs351241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74182345 (GRCh38)
15:74474686 (GRCh37)
Canonical SPDI:: NC_000015.10:74182344:C:T
Gene:: STRA6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001629/249 (ALFA)
T=0./0 (KOREAN)
T=0.000546/1 (Korea1K)
T=0.002352/591 (GnomAD_exomes)
T=0.002976/357 (ExAC)
T=0.004792/3 (Chileans)
T=0.009242/1296 (GnomAD)
T=0.009259/2 (Qatari)
T=0.009313/2465 (TOPMED)
T=0.009777/127 (GoESP)
T=0.010931/55 (1000Genomes)
T=0.013291/1046 (PAGE_STUDY)
T=0.017/17 (HapMap)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74182345C>T, NC_000015.9:g.74474686C>T, NG_009207.1:g.31686G>A, NM_022369.4:c.1416G>A, NM_022369.3:c.1416G>A, NM_001199042.2:c.1533G>A, NM_001199042.1:c.1533G>A, NM_001199041.2:c.1461G>A, NM_001199041.1:c.1461G>A, NM_001199040.2:c.1527G>A, NM_001199040.1:c.1527G>A, NM_001142617.2:c.1416G>A, NM_001142617.1:c.1416G>A, NM_001142619.2:c.1389G>A, NM_001142619.1:c.1389G>A, NM_001142618.2:c.1416G>A, NM_001142618.1:c.1416G>A, NW_021160016.1:g.9770C>T, XR_931877.3:n.1801G>A, XR_931877.2:n.1539G>A, XR_931877.1:n.1539G>A, XM_017022478.2:c.1464G>A, XM_017022478.1:c.1464G>A, XM_017022479.2:c.1416G>A, XM_017022479.1:c.1416G>A, XM_011521883.1:c.1416G>A

PubMed

Select item 35124212.

rs351242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74180375 (GRCh38)
15:74472716 (GRCh37)
Canonical SPDI:: NC_000015.10:74180374:G:A,NC_000015.10:74180374:G:C
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.251948/7761 (ALFA)
G=0.015358/45 (KOREAN)
G=0.01583/29 (Korea1K)
G=0.021339/358 (TOMMO)
G=0.045918/9 (HapMap)
G=0.061321/13 (Vietnamese)
G=0.089695/47 (SGDP_PRJ)
G=0.111111/24 (Qatari)
G=0.160714/9 (Siberian)
G=0.185353/928 (1000Genomes)
G=0.189139/101 (MGP)
G=0.23041/888 (ALSPAC)
G=0.245685/911 (TWINSUK)
G=0.246556/65261 (TOPMED)
G=0.256513/256 (GoNL)
G=0.266471/37307 (GnomAD)
G=0.266667/160 (NorthernSweden)
G=0.303125/1358 (Estonian)
HGVS:: NC_000015.10:g.74180375G>A, NC_000015.10:g.74180375G>C, NC_000015.9:g.74472716G>A, NC_000015.9:g.74472716G>C, NG_009207.1:g.33656C>T, NG_009207.1:g.33656C>G, NW_021160016.1:g.7800G>A, NW_021160016.1:g.7800G>C

PubMed

Select item 73316313.

rs733163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74197072 (GRCh38)
15:74489413 (GRCh37)
Canonical SPDI:: NC_000015.10:74197071:C:T
Gene:: STRA6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.168335/4035 (ALFA)
T=0.000342/1 (KOREAN)
T=0.013889/3 (Qatari)
T=0.053873/270 (1000Genomes)
T=0.067591/78 (HapMap)
T=0.071885/45 (Chileans)
T=0.121161/32070 (TOPMED)
T=0.14339/20087 (GnomAD)
T=0.15/6 (GENOME_DK)
T=0.212506/819 (ALSPAC)
T=0.221683/822 (TWINSUK)
T=0.238333/143 (NorthernSweden)
T=0.241483/241 (GoNL)
T=0.264509/1185 (Estonian)
C=0.4375/7 (Siberian)
C=0.444444/24 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74197072C>T, NC_000015.9:g.74489413C>T, NG_009207.1:g.16959G>A, NW_021160016.1:g.24497C>T

Select item 73611814.

rs736118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:74181398 (GRCh38)
15:74473739 (GRCh37)
Canonical SPDI:: NC_000015.10:74181397:C:G,NC_000015.10:74181397:C:T
Gene:: STRA6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.101026/30848 (ALFA)
T=0.078156/78 (GoNL)
T=0.083809/323 (ALSPAC)
T=0.08603/319 (TWINSUK)
T=0.08699/1130 (GoESP)
T=0.089888/48 (MGP)
T=0.09/54 (NorthernSweden)
T=0.092675/415 (Estonian)
T=0.096026/29 (FINRISK)
T=0.1/4 (GENOME_DK)
T=0.10407/14561 (GnomAD)
T=0.113899/30148 (TOPMED)
T=0.12037/26 (Qatari)
T=0.157742/12414 (PAGE_STUDY)
T=0.158342/19020 (ExAC)
T=0.161554/40521 (GnomAD_exomes)
T=0.162076/306 (HapMap)
T=0.195347/978 (1000Genomes)
T=0.341556/5723 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.34744/1018 (KOREAN)
T=0.350649/216 (Vietnamese)
T=0.3619/663 (Korea1K)
C=0.41954/73 (SGDP_PRJ)
C=0.428571/6 (Siberian)
HGVS:: NC_000015.10:g.74181398C>G, NC_000015.10:g.74181398C>T, NC_000015.9:g.74473739C>G, NC_000015.9:g.74473739C>T, NG_009207.1:g.32633G>C, NG_009207.1:g.32633G>A, NM_022369.4:c.1581G>C, NM_022369.4:c.1581G>A, NM_022369.3:c.1581G>C, NM_022369.3:c.1581G>A, NM_001199042.2:c.1698G>C, NM_001199042.2:c.1698G>A, NM_001199042.1:c.1698G>C, NM_001199042.1:c.1698G>A, NM_001199041.2:c.1626G>C, NM_001199041.2:c.1626G>A, NM_001199041.1:c.1626G>C, NM_001199041.1:c.1626G>A, NM_001199040.2:c.1692G>C, NM_001199040.2:c.1692G>A, NM_001199040.1:c.1692G>C, NM_001199040.1:c.1692G>A, NM_001142617.2:c.1581G>C, NM_001142617.2:c.1581G>A, NM_001142617.1:c.1581G>C, NM_001142617.1:c.1581G>A, NM_001142619.2:c.1554G>C, NM_001142619.2:c.1554G>A, NM_001142619.1:c.1554G>C, NM_001142619.1:c.1554G>A, NM_001142618.2:c.1581G>C, NM_001142618.2:c.1581G>A, NM_001142618.1:c.1581G>C, NM_001142618.1:c.1581G>A, NW_021160016.1:g.8823C>G, NW_021160016.1:g.8823C>T, XM_017022478.2:c.1629G>C, XM_017022478.2:c.1629G>A, XM_017022478.1:c.1629G>C, XM_017022478.1:c.1629G>A, XM_017022479.2:c.1581G>C, XM_017022479.2:c.1581G>A, XM_017022479.1:c.1581G>C, XM_017022479.1:c.1581G>A, XM_011521883.1:c.1581G>C, XM_011521883.1:c.1581G>A, NP_071764.3:p.Met527Ile, NP_071764.3:p.Met527Ile, NP_001185971.1:p.Met566Ile, NP_001185971.1:p.Met566Ile, NP_001185970.1:p.Met542Ile, NP_001185970.1:p.Met542Ile, NP_001185969.1:p.Met564Ile, NP_001185969.1:p.Met564Ile, NP_001136089.1:p.Met527Ile, NP_001136089.1:p.Met527Ile, NP_001136091.1:p.Met518Ile, NP_001136091.1:p.Met518Ile, NP_001136090.1:p.Met527Ile, NP_001136090.1:p.Met527Ile, XP_016877967.1:p.Met543Ile, XP_016877967.1:p.Met543Ile, XP_016877968.1:p.Met527Ile, XP_016877968.1:p.Met527Ile, XP_011520185.1:p.Met527Ile, XP_011520185.1:p.Met527Ile

PubMed LitVar

Select item 97175515.

rs971755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74195804 (GRCh38)
15:74488145 (GRCh37)
Canonical SPDI:: NC_000015.10:74195803:T:C
Gene:: STRA6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.184595/3487 (ALFA)
C=0.000342/1 (KOREAN)
C=0.013889/3 (Qatari)
C=0.014981/8 (MGP)
C=0.042945/14 (HapMap)
C=0.054029/271 (1000Genomes)
C=0.121255/32095 (TOPMED)
C=0.143533/20117 (GnomAD)
C=0.15/6 (GENOME_DK)
C=0.212766/820 (ALSPAC)
C=0.221683/822 (TWINSUK)
C=0.238333/143 (NorthernSweden)
C=0.241483/241 (GoNL)
C=0.264509/1185 (Estonian)
T=0.4375/7 (Siberian)
T=0.444444/24 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74195804T>C, NC_000015.9:g.74488145T>C, NG_009207.1:g.18227A>G, NW_021160016.1:g.23229T>C

Select item 97175616.

rs971756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:74195628 (GRCh38)
15:74487969 (GRCh37)
Canonical SPDI:: NC_000015.10:74195627:A:T
Gene:: STRA6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.192602/22083 (ALFA)
T=0.000342/1 (KOREAN)
T=0.001263/1 (PRJEB37584)
T=0.013889/3 (Qatari)
T=0.053873/270 (1000Genomes)
T=0.056281/4429 (PAGE_STUDY)
T=0.073874/82 (HapMap)
T=0.114441/2436 (ExAC)
T=0.121179/32075 (TOPMED)
T=0.127341/68 (MGP)
T=0.138305/21697 (GnomAD_exomes)
T=0.143786/20101 (GnomAD)
T=0.15/6 (GENOME_DK)
T=0.152288/1105 (GoESP)
T=0.212766/820 (ALSPAC)
T=0.221953/823 (TWINSUK)
T=0.238333/143 (NorthernSweden)
T=0.241483/241 (GoNL)
T=0.264732/1186 (Estonian)
A=0.4375/7 (Siberian)
A=0.444444/24 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74195628A>T, NC_000015.9:g.74487969A>T, NG_009207.1:g.18403T>A, NM_001142620.2:c.454T>A, NM_001142620.1:c.454T>A, NW_021160016.1:g.23053A>T, NP_001136092.1:p.Leu152Met

PubMed

Select item 97175717.

rs971757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74195505 (GRCh38)
15:74487846 (GRCh37)
Canonical SPDI:: NC_000015.10:74195504:G:A
Gene:: STRA6 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.178324/5038 (ALFA)
A=0.000684/2 (KOREAN)
A=0.013889/3 (Qatari)
A=0.043478/14 (HapMap)
A=0.05356/268 (1000Genomes)
A=0.089888/48 (MGP)
A=0.121134/32063 (TOPMED)
A=0.143434/20081 (GnomAD)
A=0.143901/34158 (GnomAD_exomes)
A=0.15/6 (GENOME_DK)
A=0.152242/15786 (ExAC)
A=0.154503/2007 (GoESP)
A=0.212766/820 (ALSPAC)
A=0.221683/822 (TWINSUK)
A=0.238333/143 (NorthernSweden)
A=0.240481/240 (GoNL)
A=0.264286/1184 (Estonian)
A=0.282313/83 (FINRISK)
G=0.4375/7 (Siberian)
G=0.444444/24 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74195505G>A, NC_000015.9:g.74487846G>A, NG_009207.1:g.18526C>T, NM_001142620.2:c.*97C>T, NM_001142620.1:c.*97C>T, NW_021160016.1:g.22930G>A

PubMed

Select item 97445618.

rs974456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:74194103 (GRCh38)
15:74486444 (GRCh37)
Canonical SPDI:: NC_000015.10:74194102:C:G,NC_000015.10:74194102:C:T
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.256088/34827 (ALFA)
T=0.007491/4 (MGP)
T=0.199074/43 (Qatari)
T=0.2/8 (GENOME_DK)
T=0.264024/979 (TWINSUK)
T=0.266736/1028 (ALSPAC)
T=0.282595/4736 (TOMMO)
T=0.283567/283 (GoNL)
T=0.291923/853 (KOREAN)
T=0.31441/576 (Korea1K)
T=0.32/192 (NorthernSweden)
T=0.333482/1494 (Estonian)
T=0.353821/93653 (TOPMED)
T=0.354037/114 (HapMap)
T=0.356159/49821 (GnomAD)
T=0.369613/1851 (1000Genomes)
C=0.384868/117 (SGDP_PRJ)
C=0.428571/12 (Siberian)
HGVS:: NC_000015.10:g.74194103C>G, NC_000015.10:g.74194103C>T, NC_000015.9:g.74486444C>G, NC_000015.9:g.74486444C>T, NG_009207.1:g.19928G>C, NG_009207.1:g.19928G>A, NW_021160016.1:g.21528C>G, NW_021160016.1:g.21528C>T

PubMed

Select item 227760719.

rs2277607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74180819 (GRCh38)
15:74473160 (GRCh37)
Canonical SPDI:: NC_000015.10:74180818:G:A
Gene:: STRA6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (HapMap)
A=0.000078/11 (GnomAD)
A=0.000117/31 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000297/36 (ExAC)
A=0.000303/76 (GnomAD_exomes)
A=0.007538/126 (TOMMO)
A=0.009582/28 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74180819G>A, NC_000015.9:g.74473160G>A, NG_009207.1:g.33212C>T, NM_022369.4:c.1803C>T, NM_022369.3:c.1803C>T, NM_001199042.2:c.1920C>T, NM_001199042.1:c.1920C>T, NM_001199041.2:c.1848C>T, NM_001199041.1:c.1848C>T, NM_001199040.2:c.1914C>T, NM_001199040.1:c.1914C>T, NM_001142617.2:c.1803C>T, NM_001142617.1:c.1803C>T, NM_001142619.2:c.1776C>T, NM_001142619.1:c.1776C>T, NM_001142618.2:c.1803C>T, NM_001142618.1:c.1803C>T, NW_021160016.1:g.8244G>A, XM_017022478.2:c.1851C>T, XM_017022478.1:c.1851C>T, XM_017022479.2:c.1803C>T, XM_017022479.1:c.1803C>T, XM_011521883.1:c.1803C>T

Select item 227760820.

rs2277608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:74183999 (GRCh38)
15:74476340 (GRCh37)
Canonical SPDI:: NC_000015.10:74183998:G:A,NC_000015.10:74183998:G:C
Gene:: STRA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.104732/2607 (ALFA)
C=0.119238/119 (GoNL)
C=0.125/5 (GENOME_DK)
C=0.126482/1643 (GoESP)
C=0.136482/526 (ALSPAC)
C=0.141046/523 (TWINSUK)
C=0.143333/86 (NorthernSweden)
C=0.150433/39818 (TOPMED)
C=0.165625/742 (Estonian)
C=0.166667/50 (FINRISK)
C=0.175926/38 (Qatari)
C=0.179775/96 (MGP)
C=0.195286/23557 (ExAC)
C=0.199489/49696 (GnomAD_exomes)
C=0.205653/1030 (1000Genomes)
C=0.356655/1045 (KOREAN)
C=0.357843/219 (Vietnamese)
C=0.364029/6101 (TOMMO)
C=0.36845/675 (Korea1K)
G=0.388889/7 (Siberian)
G=0.427928/95 (SGDP_PRJ)
HGVS:: NC_000015.10:g.74183999G>A, NC_000015.10:g.74183999G>C, NC_000015.9:g.74476340G>A, NC_000015.9:g.74476340G>C, NG_009207.1:g.30032C>T, NG_009207.1:g.30032C>G, NW_021160016.1:g.11424G>A, NW_021160016.1:g.11424G>C

PubMed

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