SLC7A7 - SNP

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Select item 10610401.

rs1061040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 14:22773619 (GRCh38)
14:23242828 (GRCh37)
Canonical SPDI:: NC_000014.9:22773618:T:A,NC_000014.9:22773618:T:C,NC_000014.9:22773618:T:G
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: not-provided,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.112024/38863 (ALFA)
G=0./0 (KOREAN)
T=0./0 (PRJEB36033)
T=0.037037/2 (Siberian)
T=0.05/2 (GENOME_DK)
T=0.05719/35 (Vietnamese)
T=0.083375/1397 (TOMMO)
T=0.091912/50 (SGDP_PRJ)
T=0.096154/75 (PRJEB37584)
T=0.097087/360 (TWINSUK)
T=0.104258/191 (Korea1K)
T=0.106902/412 (ALSPAC)
T=0.108614/58 (MGP)
T=0.117234/117 (GoNL)
T=0.11875/532 (Estonian)
T=0.123517/31052 (GnomAD_exomes)
T=0.12709/76 (NorthernSweden)
T=0.134868/41 (FINRISK)
T=0.134899/16370 (ExAC)
T=0.171296/37 (Qatari)
T=0.181159/100 (PharmGKB)
T=0.219177/58014 (TOPMED)
T=0.220632/30903 (GnomAD)
T=0.223454/1119 (1000Genomes)
T=0.230817/3002 (GoESP)
T=0.270356/21277 (PAGE_STUDY)
T=0.273256/517 (HapMap)
HGVS:: NC_000014.9:g.22773619T>A, NC_000014.9:g.22773619T>C, NC_000014.9:g.22773619T>G, NC_000014.8:g.23242828T>A, NC_000014.8:g.23242828T>C, NC_000014.8:g.23242828T>G, NG_012851.2:g.61202A>T, NG_012851.2:g.61202A>G, NG_012851.2:g.61202A>C, NM_001126106.4:c.1527A>T, NM_001126106.4:c.1527A>G, NM_001126106.4:c.1527A>C, NM_001126106.3:c.1527A>T, NM_001126106.3:c.1527A>G, NM_001126106.3:c.1527A>C, NM_001126106.2:c.1527A>T, NM_001126106.2:c.1527A>G, NM_001126106.2:c.1527A>C, NM_003982.4:c.1527A>T, NM_003982.4:c.1527A>G, NM_003982.4:c.1527A>C, NM_003982.3:c.1527A>T, NM_003982.3:c.1527A>G, NM_003982.3:c.1527A>C, NM_003982.2:c.1527G>A, NM_003982.2:c.1527G>T, NM_003982.2:c.1527G>C, NM_003982.1:c.1527G>A, NM_003982.1:c.1527G>T, NM_003982.1:c.1527G>C, NM_001126105.3:c.1527A>T, NM_001126105.3:c.1527A>G, NM_001126105.3:c.1527A>C, NM_001126105.2:c.1527A>T, NM_001126105.2:c.1527A>G, NM_001126105.2:c.1527A>C, NG_051068.1:g.12098T>A, NG_051068.1:g.12098T>C, NG_051068.1:g.12098T>G, XM_011537299.2:c.1527A>T, XM_011537299.2:c.1527A>G, XM_011537299.2:c.1527A>C, XM_011537299.1:c.1527A>T, XM_011537299.1:c.1527A>G, XM_011537299.1:c.1527A>C, NR_040448.2:n.1685A>T, NR_040448.2:n.1685A>G, NR_040448.2:n.1685A>C, NR_040448.1:n.2142A>T, NR_040448.1:n.2142A>G, NR_040448.1:n.2142A>C, XM_047431879.1:c.1041A>T, XM_047431879.1:c.1041A>G, XM_047431879.1:c.1041A>C, NP_001119578.1:p.Lys509Asn, NP_001119578.1:p.Lys509Asn, NP_003973.3:p.Lys509Asn, NP_003973.3:p.Lys509Asn, NP_001119577.1:p.Lys509Asn, NP_001119577.1:p.Lys509Asn, XP_011535601.1:p.Lys509Asn, XP_011535601.1:p.Lys509Asn, XP_047287835.1:p.Lys347Asn, XP_047287835.1:p.Lys347Asn

LitVar

Select item 18050592.

rs1805059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:22813240 (GRCh38)
14:23282449 (GRCh37)
Canonical SPDI:: NC_000014.9:22813239:C:G,NC_000014.9:22813239:C:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: not-provided,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.396969/101744 (ALFA)
C=0.188172/3153 (TOMMO)
C=0.201706/591 (KOREAN)
C=0.222222/172 (PRJEB37584)
C=0.225437/413 (Korea1K)
C=0.244306/118 (Vietnamese)
C=0.264344/129 (SGDP_PRJ)
C=0.36/18 (Siberian)
C=0.365942/202 (PharmGKB)
C=0.382783/96067 (GnomAD_exomes)
C=0.391755/30828 (PAGE_STUDY)
C=0.392696/47579 (ExAC)
C=0.393474/1459 (TWINSUK)
C=0.39699/1530 (ALSPAC)
C=0.398501/1996 (1000Genomes)
C=0.402646/761 (HapMap)
C=0.406027/1819 (Estonian)
C=0.410822/410 (GoNL)
C=0.413091/109341 (TOPMED)
C=0.418333/251 (NorthernSweden)
C=0.420166/58798 (GnomAD)
C=0.437567/5691 (GoESP)
C=0.449438/240 (MGP)
T=0.45/18 (GENOME_DK)
C=0.490741/106 (Qatari)
HGVS:: NC_000014.9:g.22813240C>G, NC_000014.9:g.22813240C>T, NC_000014.8:g.23282449C>G, NC_000014.8:g.23282449C>T, NG_012851.2:g.21581G>C, NG_012851.2:g.21581G>A, NM_001126106.4:c.159G>C, NM_001126106.4:c.159G>A, NM_001126106.3:c.159G>C, NM_001126106.3:c.159G>A, NM_001126106.2:c.159G>C, NM_001126106.2:c.159G>A, NM_003982.4:c.159G>C, NM_003982.4:c.159G>A, NM_003982.3:c.159G>C, NM_003982.3:c.159G>A, NM_003982.2:c.159A>G, NM_003982.2:c.159A>C, NM_003982.1:c.159A>G, NM_003982.1:c.159A>C, NM_001126105.3:c.159G>C, NM_001126105.3:c.159G>A, NM_001126105.2:c.159G>C, NM_001126105.2:c.159G>A, XM_011537299.2:c.159G>C, XM_011537299.2:c.159G>A, XM_011537299.1:c.159G>C, XM_011537299.1:c.159G>A, NR_040448.2:n.317G>C, NR_040448.2:n.317G>A, NR_040448.1:n.774G>C, NR_040448.1:n.774G>A

Select item 18050613.

rs1805061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:22778903 (GRCh38)
14:23248112 (GRCh37)
Canonical SPDI:: NC_000014.9:22778902:A:G
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: not-provided,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.137542/34884 (ALFA)
G=0.069444/15 (Qatari)
G=0.093807/103 (Daghestan)
G=0.132416/491 (TWINSUK)
G=0.133705/599 (Estonian)
G=0.134831/72 (MGP)
G=0.134868/41 (FINRISK)
G=0.135/81 (NorthernSweden)
G=0.135963/524 (ALSPAC)
G=0.137275/137 (GoNL)
G=0.173535/2257 (GoESP)
G=0.181325/21928 (ExAC)
G=0.185527/46620 (GnomAD_exomes)
G=0.186607/26135 (GnomAD)
G=0.198043/52420 (TOPMED)
G=0.2/8 (GENOME_DK)
G=0.203935/425 (HGDP_Stanford)
G=0.235507/130 (PharmGKB)
G=0.239069/1197 (1000Genomes)
G=0.241543/457 (HapMap)
G=0.272727/18 (PRJEB36033)
G=0.295881/4959 (TOMMO)
G=0.317708/244 (PRJEB37584)
G=0.330375/968 (KOREAN)
G=0.34607/634 (Korea1K)
G=0.365574/223 (Vietnamese)
A=0.415842/84 (SGDP_PRJ)
A=0.444444/8 (Siberian)
HGVS:: NC_000014.9:g.22778903A>G, NC_000014.8:g.23248112A>G, NG_012851.2:g.55918T>C, NM_001126106.4:c.660T>C, NM_001126106.3:c.660T>C, NM_001126106.2:c.660T>C, NM_003982.4:c.660T>C, NM_003982.3:c.660T>C, NM_003982.2:c.660T>C, NM_003982.1:c.660T>C, NM_001126105.3:c.660T>C, NM_001126105.2:c.660T>C, XM_011537299.2:c.660T>C, XM_011537299.1:c.660T>C, NR_040448.2:n.818T>C, NR_040448.1:n.1275T>C, XM_047431879.1:c.174T>C

PubMed LitVar

Select item 18050624.

rs1805062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:22774480 (GRCh38)
14:23243689 (GRCh37)
Canonical SPDI:: NC_000014.9:22774479:C:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001502/74 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.000308/4 (GoESP)
T=0.000363/96 (TOPMED)
T=0.001062/18 (TOMMO)
T=0.001562/8 (1000Genomes)
T=0.003275/6 (Korea1K)
T=0.003422/10 (KOREAN)
T=0.005779/810 (GnomAD)
T=0.005824/707 (ExAC)
T=0.006476/1628 (GnomAD_exomes)
T=0.008333/5 (NorthernSweden)
T=0.013393/60 (Estonian)
T=0.055921/17 (FINRISK)
C=0.25/1 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000014.9:g.22774480C>T, NC_000014.8:g.23243689C>T, NG_012851.2:g.60341G>A, NM_001126106.4:c.1119G>A, NM_001126106.3:c.1119G>A, NM_001126106.2:c.1119G>A, NM_003982.4:c.1119G>A, NM_003982.3:c.1119G>A, NM_003982.2:c.1119G>A, NM_003982.1:c.1119G>A, NM_001126105.3:c.1119G>A, NM_001126105.2:c.1119G>A, XM_011537299.2:c.1119G>A, XM_011537299.1:c.1119G>A, NR_040448.2:n.1277G>A, NR_040448.1:n.1734G>A, XM_047431879.1:c.633G>A

Select item 22816775.

rs2281677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:22815363 (GRCh38)
14:23284572 (GRCh37)
Canonical SPDI:: NC_000014.9:22815362:A:G
Gene:: SLC7A7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.417736/97365 (ALFA)
A=0.284875/4775 (TOMMO)
A=0.2897/135 (SGDP_PRJ)
A=0.336449/72 (Vietnamese)
A=0.337079/120 (PharmGKB)
A=0.344027/1008 (KOREAN)
A=0.35262/646 (Korea1K)
A=0.369565/17 (Siberian)
G=0.4/16 (GENOME_DK)
A=0.412879/57325 (GnomAD_exomes)
A=0.418015/1550 (TWINSUK)
A=0.419824/1618 (ALSPAC)
A=0.42614/2134 (1000Genomes)
A=0.430357/1928 (Estonian)
A=0.43129/816 (HapMap)
A=0.432895/114583 (TOPMED)
A=0.435284/491 (Daghestan)
A=0.441831/61829 (GnomAD)
A=0.441948/236 (MGP)
A=0.44489/444 (GoNL)
A=0.470614/6566 (ExAC)
A=0.490741/106 (Qatari)
A=0.498333/299 (NorthernSweden)
HGVS:: NC_000014.9:g.22815363A>G, NC_000014.8:g.23284572A>G, NG_012851.2:g.19458T>C, NM_001126106.4:c.-86T>C, NM_001126106.3:c.-86T>C, NM_001126106.2:c.-86T>C, NM_003982.4:c.-86T>C, NM_003982.3:c.-86T>C, NM_003982.2:c.-86C>T, NM_003982.1:c.-86C>T, NM_001126105.3:c.-86T>C, NM_001126105.2:c.-86T>C, NR_040448.2:n.73T>C, NR_040448.1:n.530T>C

Select item 37514856.

rs3751485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 14:22775720 (GRCh38)
14:23244929 (GRCh37)
Canonical SPDI:: NC_000014.9:22775719:A:C,NC_000014.9:22775719:A:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.227221/4838 (ALFA)
T=0.026217/14 (MGP)
T=0.21/126 (NorthernSweden)
T=0.210502/29485 (GnomAD)
T=0.212963/69 (HapMap)
T=0.216518/970 (Estonian)
T=0.226265/59890 (TOPMED)
T=0.233467/233 (GoNL)
T=0.236118/910 (ALSPAC)
T=0.239694/1200 (1000Genomes)
T=0.250539/929 (TWINSUK)
T=0.253982/287 (Daghestan)
T=0.268519/58 (Qatari)
T=0.325/13 (GENOME_DK)
A=0.382812/98 (SGDP_PRJ)
T=0.422394/7079 (TOMMO)
T=0.450512/1320 (KOREAN)
T=0.461245/845 (Korea1K)
A=0.46875/15 (Siberian)
HGVS:: NC_000014.9:g.22775720A>C, NC_000014.9:g.22775720A>T, NC_000014.8:g.23244929A>C, NC_000014.8:g.23244929A>T, NG_012851.2:g.59101T>G, NG_012851.2:g.59101T>A

Select item 38294067.

rs3829406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:22776043 (GRCh38)
14:23245252 (GRCh37)
Canonical SPDI:: NC_000014.9:22776042:A:G,NC_000014.9:22776042:A:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.133833/9936 (ALFA)
G=0./0 (PRJEB36033)
G=0.075/3 (GENOME_DK)
G=0.080952/17 (Vietnamese)
G=0.084189/1411 (TOMMO)
G=0.089908/98 (Daghestan)
G=0.097536/285 (KOREAN)
G=0.097627/362 (TWINSUK)
G=0.103712/190 (Korea1K)
G=0.107161/413 (ALSPAC)
G=0.108614/58 (MGP)
G=0.117411/526 (Estonian)
G=0.118497/246 (HGDP_Stanford)
G=0.119238/119 (GoNL)
G=0.128333/77 (NorthernSweden)
G=0.171296/37 (Qatari)
G=0.201745/53400 (TOPMED)
G=0.204521/28662 (GnomAD)
G=0.207839/1041 (1000Genomes)
G=0.238901/452 (HapMap)
A=0.333333/2 (Siberian)
A=0.42/42 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22776043A>G, NC_000014.9:g.22776043A>T, NC_000014.8:g.23245252A>G, NC_000014.8:g.23245252A>T, NG_012851.2:g.58778T>C, NG_012851.2:g.58778T>A

Select item 38294078.

rs3829407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 14:22813490 (GRCh38)
14:23282699 (GRCh37)
Canonical SPDI:: NC_000014.9:22813489:A:C,NC_000014.9:22813489:A:G,NC_000014.9:22813489:A:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.464019/8460 (ALFA)
G=0./0 (KOREAN)
A=0.189248/3171 (TOMMO)
A=0.216981/46 (Vietnamese)
A=0.225983/414 (Korea1K)
A=0.264344/129 (SGDP_PRJ)
A=0.36/18 (Siberian)
A=0.380182/71088 (GnomAD_exomes)
A=0.393474/1459 (TWINSUK)
A=0.393841/26359 (ExAC)
A=0.397509/1532 (ALSPAC)
A=0.398501/1996 (1000Genomes)
A=0.402748/762 (HapMap)
A=0.40625/1820 (Estonian)
A=0.411824/411 (GoNL)
A=0.412165/109096 (TOPMED)
A=0.418333/251 (NorthernSweden)
A=0.420257/58852 (GnomAD)
A=0.425094/227 (MGP)
T=0.45/18 (GENOME_DK)
A=0.490741/106 (Qatari)
HGVS:: NC_000014.9:g.22813490A>C, NC_000014.9:g.22813490A>G, NC_000014.9:g.22813490A>T, NC_000014.8:g.23282699A>C, NC_000014.8:g.23282699A>G, NC_000014.8:g.23282699A>T, NG_012851.2:g.21331T>G, NG_012851.2:g.21331T>C, NG_012851.2:g.21331T>A

Select item 38502909.

rs3850290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 14:22776092 (GRCh38)
14:23245301 (GRCh37)
Canonical SPDI:: NC_000014.9:22776091:T:A,NC_000014.9:22776091:T:C,NC_000014.9:22776091:T:G
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.358829/78478 (ALFA)
T=0.179206/3003 (TOMMO)
T=0.197034/93 (SGDP_PRJ)
T=0.2/8 (GENOME_DK)
T=0.203754/597 (KOREAN)
T=0.205786/377 (Korea1K)
T=0.22381/47 (Vietnamese)
T=0.230769/12 (Siberian)
T=0.316699/660 (HGDP_Stanford)
T=0.33/198 (NorthernSweden)
T=0.333333/28 (PRJEB36033)
T=0.333873/1238 (TWINSUK)
T=0.337963/73 (Qatari)
T=0.34243/389 (Daghestan)
T=0.344482/70645 (GENOGRAPHIC)
T=0.351116/1573 (Estonian)
T=0.355475/1370 (ALSPAC)
T=0.355805/190 (MGP)
T=0.363727/363 (GoNL)
T=0.44644/2236 (1000Genomes)
T=0.456795/120909 (TOPMED)
T=0.485185/917 (HapMap)
HGVS:: NC_000014.9:g.22776092T>A, NC_000014.9:g.22776092T>C, NC_000014.9:g.22776092T>G, NC_000014.8:g.23245301T>A, NC_000014.8:g.23245301T>C, NC_000014.8:g.23245301T>G, NG_012851.2:g.58729A>T, NG_012851.2:g.58729A>G, NG_012851.2:g.58729A>C

PubMed LitVar

Select item 715765410.

rs7157654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:22813541 (GRCh38)
14:23282750 (GRCh37)
Canonical SPDI:: NC_000014.9:22813540:A:C
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.408851/30636 (ALFA)
C=0.138577/74 (MGP)
A=0.188053/3152 (TOMMO)
A=0.20273/594 (KOREAN)
A=0.212264/45 (Vietnamese)
A=0.225983/414 (Korea1K)
A=0.264344/129 (SGDP_PRJ)
A=0.36/18 (Siberian)
A=0.36/36 (PRJEB36033)
A=0.386167/804 (HGDP_Stanford)
A=0.393743/1460 (TWINSUK)
A=0.397509/1532 (ALSPAC)
A=0.398501/1996 (1000Genomes)
A=0.401483/758 (HapMap)
A=0.406027/1819 (Estonian)
A=0.411824/411 (GoNL)
A=0.41215/109092 (TOPMED)
A=0.418333/251 (NorthernSweden)
A=0.420275/58862 (GnomAD)
C=0.45/18 (GENOME_DK)
A=0.49537/107 (Qatari)
HGVS:: NC_000014.9:g.22813541A>C, NC_000014.8:g.23282750A>C, NG_012851.2:g.21280T>G

Select item 801353111.

rs8013531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:22778478 (GRCh38)
14:23247687 (GRCh37)
Canonical SPDI:: NC_000014.9:22778477:T:C
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.438915/89752 (ALFA)
T=0.307692/16 (Siberian)
C=0.322917/5412 (TOMMO)
T=0.334197/129 (SGDP_PRJ)
T=0.375/15 (GENOME_DK)
T=0.395792/395 (GoNL)
T=0.401667/241 (NorthernSweden)
T=0.403217/1554 (ALSPAC)
T=0.406688/1508 (TWINSUK)
C=0.414847/760 (Korea1K)
C=0.429107/2149 (1000Genomes)
C=0.429693/1259 (KOREAN)
C=0.430422/897 (HGDP_Stanford)
T=0.434975/89203 (GENOGRAPHIC)
C=0.436575/826 (HapMap)
C=0.470588/16 (PRJEB36033)
T=0.471429/2112 (Estonian)
T=0.485009/550 (Daghestan)
C=0.485798/128586 (TOPMED)
C=0.485981/104 (Vietnamese)
T=0.486111/105 (Qatari)
C=0.4978/69690 (GnomAD)
HGVS:: NC_000014.9:g.22778478T>C, NC_000014.8:g.23247687T>C, NG_012851.2:g.56343A>G

Select item 801584912.

rs8015849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:22819727 (GRCh38)
14:23288936 (GRCh37)
Canonical SPDI:: NC_000014.9:22819726:G:A,NC_000014.9:22819726:G:C,NC_000014.9:22819726:G:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
A=0./0 (ALSPAC)
A=0.00081/3 (TWINSUK)
A=0.00578/29 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22819727G>A, NC_000014.9:g.22819727G>C, NC_000014.9:g.22819727G>T, NC_000014.8:g.23288936G>A, NC_000014.8:g.23288936G>C, NC_000014.8:g.23288936G>T, NG_012851.2:g.15094C>T, NG_012851.2:g.15094C>G, NG_012851.2:g.15094C>A, NM_001126106.4:c.-264C>T, NM_001126106.4:c.-264C>G, NM_001126106.4:c.-264C>A, NM_001126106.2:c.-264C>T, NM_001126106.2:c.-264C>G, NM_001126106.2:c.-264C>A, XM_011537299.2:c.-132C>T, XM_011537299.2:c.-132C>G, XM_011537299.2:c.-132C>A, XM_011537299.1:c.-132C>T, XM_011537299.1:c.-132C>G, XM_011537299.1:c.-132C>A, NM_003982.1:c.-264C>T, NM_003982.1:c.-264C>G, NM_003982.1:c.-264C>A

Select item 801663413.

rs8016634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:22812943 (GRCh38)
14:23282152 (GRCh37)
Canonical SPDI:: NC_000014.9:22812942:G:A
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007578/1341 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000223/1 (Estonian)
A=0.000342/1 (KOREAN)
A=0.001038/4 (ALSPAC)
A=0.001873/1 (MGP)
A=0.002427/9 (TWINSUK)
A=0.008474/2109 (GnomAD_exomes)
A=0.010526/1274 (ExAC)
A=0.021064/19 (PharmGKB)
A=0.027778/6 (Qatari)
A=0.031131/4357 (GnomAD)
A=0.032974/8728 (TOPMED)
A=0.033417/167 (1000Genomes)
A=0.034676/451 (GoESP)
A=0.076625/99 (HapMap)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22812943G>A, NC_000014.8:g.23282152G>A, NG_012851.2:g.21878C>T, NM_001126106.4:c.456C>T, NM_001126106.3:c.456C>T, NM_001126106.2:c.456C>T, NM_003982.4:c.456C>T, NM_003982.3:c.456C>T, NM_003982.2:c.456C>T, NM_003982.1:c.456C>T, NM_001126105.3:c.456C>T, NM_001126105.2:c.456C>T, XM_011537299.2:c.456C>T, XM_011537299.1:c.456C>T, NR_040448.2:n.614C>T, NR_040448.1:n.1071C>T

Select item 801846214.

rs8018462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 14:22812901 (GRCh38)
14:23282110 (GRCh37)
Canonical SPDI:: NC_000014.9:22812900:A:C,NC_000014.9:22812900:A:G,NC_000014.9:22812900:A:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: not-provided,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.472577/22472 (ALFA)
A=0.187841/3148 (TOMMO)
A=0.199659/585 (KOREAN)
A=0.204248/125 (Vietnamese)
A=0.225137/412 (Korea1K)
A=0.230053/173 (PRJEB37584)
A=0.269874/129 (SGDP_PRJ)
A=0.38/19 (Siberian)
A=0.384058/212 (PharmGKB)
G=0.4/16 (GENOME_DK)
A=0.423329/2120 (1000Genomes)
A=0.433575/106787 (GnomAD_exomes)
G=0.435185/94 (Qatari)
A=0.43966/52309 (ExAC)
G=0.451311/241 (MGP)
A=0.458582/121382 (TOPMED)
A=0.459375/147 (HapMap)
A=0.464132/1721 (TWINSUK)
A=0.46549/1794 (ALSPAC)
A=0.467105/142 (FINRISK)
A=0.46762/65001 (GnomAD)
A=0.477882/2139 (Estonian)
A=0.486667/292 (NorthernSweden)
A=0.492606/6396 (GoESP)
HGVS:: NC_000014.9:g.22812901A>C, NC_000014.9:g.22812901A>G, NC_000014.9:g.22812901A>T, NC_000014.8:g.23282110A>C, NC_000014.8:g.23282110A>G, NC_000014.8:g.23282110A>T, NG_012851.2:g.21920T>G, NG_012851.2:g.21920T>C, NG_012851.2:g.21920T>A, NM_001126106.4:c.498T>G, NM_001126106.4:c.498T>C, NM_001126106.4:c.498T>A, NM_001126106.3:c.498T>G, NM_001126106.3:c.498T>C, NM_001126106.3:c.498T>A, NM_001126106.2:c.498T>G, NM_001126106.2:c.498T>C, NM_001126106.2:c.498T>A, NM_003982.4:c.498T>G, NM_003982.4:c.498T>C, NM_003982.4:c.498T>A, NM_003982.3:c.498T>G, NM_003982.3:c.498T>C, NM_003982.3:c.498T>A, NM_003982.2:c.498T>G, NM_003982.2:c.498T>C, NM_003982.2:c.498T>A, NM_003982.1:c.498C>T, NM_003982.1:c.498C>G, NM_003982.1:c.498C>A, NM_001126105.3:c.498T>G, NM_001126105.3:c.498T>C, NM_001126105.3:c.498T>A, NM_001126105.2:c.498T>G, NM_001126105.2:c.498T>C, NM_001126105.2:c.498T>A, XM_011537299.2:c.498T>G, XM_011537299.2:c.498T>C, XM_011537299.2:c.498T>A, XM_011537299.1:c.498T>G, XM_011537299.1:c.498T>C, XM_011537299.1:c.498T>A, NR_040448.2:n.656T>G, NR_040448.2:n.656T>C, NR_040448.2:n.656T>A, NR_040448.1:n.1113T>G, NR_040448.1:n.1113T>C, NR_040448.1:n.1113T>A, NP_001119578.1:p.Ile166Met, NP_003973.3:p.Ile166Met, NP_001119577.1:p.Ile166Met, XP_011535601.1:p.Ile166Met

Select item 801965615.

rs8019656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:22815939 (GRCh38)
14:23285148 (GRCh37)
Canonical SPDI:: NC_000014.9:22815938:T:C
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.493046/124993 (ALFA)
T=0.208333/5 (ExAC)
T=0.272936/119 (SGDP_PRJ)
T=0.340909/15 (Siberian)
T=0.35/14 (GENOME_DK)
T=0.356237/674 (HapMap)
T=0.375/81 (Qatari)
T=0.375546/688 (Korea1K)
T=0.376623/290 (PRJEB37584)
T=0.382746/30116 (PAGE_STUDY)
T=0.386009/1933 (1000Genomes)
T=0.394881/1157 (KOREAN)
T=0.396226/84 (Vietnamese)
T=0.417689/110558 (TOPMED)
T=0.419853/58745 (GnomAD)
T=0.435/261 (NorthernSweden)
T=0.454809/7623 (TOMMO)
T=0.457617/23754 (GnomAD_exomes)
T=0.465625/2086 (Estonian)
T=0.477956/477 (GoNL)
C=0.490022/1817 (TWINSUK)
C=0.494292/1905 (ALSPAC)
HGVS:: NC_000014.9:g.22815939T>C, NC_000014.8:g.23285148T>C, NG_012851.2:g.18882A>G

Select item 1014584616.

rs10145846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:22779095 (GRCh38)
14:23248304 (GRCh37)
Canonical SPDI:: NC_000014.9:22779094:G:T
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.058197/1562 (ALFA)
T=0.018727/10 (MGP)
T=0.031667/19 (NorthernSweden)
T=0.032813/147 (Estonian)
T=0.049098/49 (GoNL)
T=0.052936/265 (1000Genomes)
T=0.056338/64 (Daghestan)
T=0.056634/210 (TWINSUK)
T=0.057224/8025 (GnomAD)
T=0.05864/226 (ALSPAC)
T=0.059269/15688 (TOPMED)
T=0.060185/13 (Qatari)
T=0.068036/106 (HapMap)
T=0.075/3 (GENOME_DK)
G=0.456522/21 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000014.9:g.22779095G>T, NC_000014.8:g.23248304G>T, NG_012851.2:g.55726C>A

Select item 1056677017.

rs10566770 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 14:22812650 (GRCh38)
14:23281859 (GRCh37)
Canonical SPDI:: NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:22812639:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC7A7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3922/1964 (1000Genomes)
HGVS:: NC_000014.9:g.22812650_22812657del, NC_000014.9:g.22812654_22812657del, NC_000014.9:g.22812655_22812657del, NC_000014.9:g.22812656_22812657del, NC_000014.9:g.22812657del, NC_000014.9:g.22812657dup, NC_000014.8:g.23281859_23281866del, NC_000014.8:g.23281863_23281866del, NC_000014.8:g.23281864_23281866del, NC_000014.8:g.23281865_23281866del, NC_000014.8:g.23281866del, NC_000014.8:g.23281866dup, NG_012851.2:g.22174_22181del, NG_012851.2:g.22178_22181del, NG_012851.2:g.22179_22181del, NG_012851.2:g.22180_22181del, NG_012851.2:g.22181del, NG_012851.2:g.22181dup

Select item 1059522618.

rs10595226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTA>-,TCTTATCTTA [Show Flanks]
Chromosome:: 14:22775233 (GRCh38)
14:23244442 (GRCh37)
Canonical SPDI:: NC_000014.9:22775228:CTTATCTTA:CTTA,NC_000014.9:22775228:CTTATCTTA:CTTATCTTATCTTA
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CTTA=0.215466/3990 (ALFA)
-=0.1954/875 (Estonian)
-=0.203333/122 (NorthernSweden)
-=0.206796/28690 (GnomAD)
-=0.222098/58787 (TOPMED)
-=0.231463/231 (GoNL)
-=0.233916/1171 (1000Genomes)
-=0.235859/909 (ALSPAC)
-=0.252697/937 (TWINSUK)
-=0.352381/74 (Vietnamese)
-=0.372142/6237 (TOMMO)
-=0.43224/791 (Korea1K)
HGVS:: NC_000014.9:g.22775233_22775237del, NC_000014.9:g.22775233_22775237dup, NC_000014.8:g.23244442_23244446del, NC_000014.8:g.23244442_23244446dup, NG_012851.2:g.59588_59592del, NG_012851.2:g.59588_59592dup

Select item 1064459019.

rs10644590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAA [Show Flanks]
Chromosome:: 14:22813699 (GRCh38)
14:23282909 (GRCh37)
Canonical SPDI:: NC_000014.9:22813699:GCAA:GCAAGCAA
Gene:: SLC7A7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GCAA=0.424495/6932 (ALFA)
-=0.191959/3217 (TOMMO)
-=0.228166/418 (Korea1K)
-=0.392934/1457 (TWINSUK)
-=0.39699/1530 (ALSPAC)
-=0.398501/1996 (1000Genomes)
-=0.411568/1843 (Estonian)
-=0.412826/412 (GoNL)
-=0.418333/251 (NorthernSweden)
-=0.422413/58832 (GnomAD)
GCAA=0.45/18 (GENOME_DK)
HGVS:: NC_000014.9:g.22813700_22813703dup, NC_000014.8:g.23282909_23282912dup, NG_012851.2:g.21118_21121dup

Select item 1143090920.

rs11430909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:22778577 (GRCh38)
14:23247787 (GRCh37)
Canonical SPDI:: NC_000014.9:22778577:AAAAA:AAAAAA
Gene:: SLC7A7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.452057/7383 (ALFA)
A=0.276417/4633 (TOMMO)
A=0.293269/61 (Vietnamese)
A=0.301856/553 (Korea1K)
A=0.375/15 (GENOME_DK)
A=0.397096/1989 (1000Genomes)
A=0.425446/1906 (Estonian)
A=0.456667/274 (NorthernSweden)
A=0.470974/65943 (GnomAD)
A=0.480852/1783 (TWINSUK)
A=0.492986/492 (GoNL)
A=0.499481/1925 (ALSPAC)
HGVS:: NC_000014.9:g.22778582dup, NC_000014.8:g.23247791dup, NG_012851.2:g.56243dup

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