SNP Links for Gene (Select 7515) - SNP

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Select item 14915267901.

rs1491526790 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14915046412.

rs1491504641 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:43566897 (GRCh38)
19:44071049 (GRCh37)
Canonical SPDI:: NC_000019.10:43566896:AG:
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.43566897_43566898del, NC_000019.9:g.44071049_44071050del, NG_033799.1:g.13681_13682del

Select item 14914059803.

rs1491405980 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:43559479 (GRCh38)
19:44063631 (GRCh37)
Canonical SPDI:: NC_000019.10:43559478:CA:
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.43559479_43559480del, NC_000019.9:g.44063631_44063632del, NG_033799.1:g.21099_21100del

Select item 14914040494.

rs1491404049 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:43557307 (GRCh38)
19:44061459 (GRCh37)
Canonical SPDI:: NC_000019.10:43557306:CA:
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03836/455 (ALFA)
-=0.01316/217 (TOMMO)
HGVS:: NC_000019.10:g.43557307_43557308del, NC_000019.9:g.44061459_44061460del, NG_033799.1:g.23271_23272del

Select item 14913807525.

rs1491380752 has merged into rs33984597 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43557317 (GRCh38)
19:44061469 (GRCh37)
Canonical SPDI:: NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43557307:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.43557317_43557331del, NC_000019.10:g.43557318_43557331del, NC_000019.10:g.43557319_43557331del, NC_000019.10:g.43557320_43557331del, NC_000019.10:g.43557321_43557331del, NC_000019.10:g.43557323_43557331del, NC_000019.10:g.43557324_43557331del, NC_000019.10:g.43557325_43557331del, NC_000019.10:g.43557326_43557331del, NC_000019.10:g.43557327_43557331del, NC_000019.10:g.43557328_43557331del, NC_000019.10:g.43557329_43557331del, NC_000019.10:g.43557330_43557331del, NC_000019.10:g.43557331del, NC_000019.10:g.43557331dup, NC_000019.10:g.43557330_43557331dup, NC_000019.10:g.43557329_43557331dup, NC_000019.10:g.43557328_43557331dup, NC_000019.10:g.43557327_43557331dup, NC_000019.10:g.43557326_43557331dup, NC_000019.10:g.43557325_43557331dup, NC_000019.10:g.43557324_43557331dup, NC_000019.9:g.44061469_44061483del, NC_000019.9:g.44061470_44061483del, NC_000019.9:g.44061471_44061483del, NC_000019.9:g.44061472_44061483del, NC_000019.9:g.44061473_44061483del, NC_000019.9:g.44061475_44061483del, NC_000019.9:g.44061476_44061483del, NC_000019.9:g.44061477_44061483del, NC_000019.9:g.44061478_44061483del, NC_000019.9:g.44061479_44061483del, NC_000019.9:g.44061480_44061483del, NC_000019.9:g.44061481_44061483del, NC_000019.9:g.44061482_44061483del, NC_000019.9:g.44061483del, NC_000019.9:g.44061483dup, NC_000019.9:g.44061482_44061483dup, NC_000019.9:g.44061481_44061483dup, NC_000019.9:g.44061480_44061483dup, NC_000019.9:g.44061479_44061483dup, NC_000019.9:g.44061478_44061483dup, NC_000019.9:g.44061477_44061483dup, NC_000019.9:g.44061476_44061483dup, NG_033799.1:g.23257_23271del, NG_033799.1:g.23258_23271del, NG_033799.1:g.23259_23271del, NG_033799.1:g.23260_23271del, NG_033799.1:g.23261_23271del, NG_033799.1:g.23263_23271del, NG_033799.1:g.23264_23271del, NG_033799.1:g.23265_23271del, NG_033799.1:g.23266_23271del, NG_033799.1:g.23267_23271del, NG_033799.1:g.23268_23271del, NG_033799.1:g.23269_23271del, NG_033799.1:g.23270_23271del, NG_033799.1:g.23271del, NG_033799.1:g.23271dup, NG_033799.1:g.23270_23271dup, NG_033799.1:g.23269_23271dup, NG_033799.1:g.23268_23271dup, NG_033799.1:g.23267_23271dup, NG_033799.1:g.23266_23271dup, NG_033799.1:g.23265_23271dup, NG_033799.1:g.23264_23271dup

Select item 14912650736.

rs1491265073 has merged into rs35099263 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
Chromosome:: 19:43576490 (GRCh38)
19:44080642 (GRCh37)
Canonical SPDI:: NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:43576476:CACACACACACACACACAC:CACACACACACACACACACACACACAC
Gene:: XRCC1 (Varview), PINLYP (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACAC=0./0 (ALFA)
CACACACA=0.000011/3 (TOPMED)
CA=0.125599/629 (1000Genomes)
CA=0.206667/124 (NorthernSweden)
CA=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.43576478AC[6], NC_000019.10:g.43576478AC[7], NC_000019.10:g.43576478AC[8], NC_000019.10:g.43576478AC[10], NC_000019.10:g.43576478AC[11], NC_000019.10:g.43576478AC[12], NC_000019.10:g.43576478AC[13], NC_000019.9:g.44080630AC[6], NC_000019.9:g.44080630AC[7], NC_000019.9:g.44080630AC[8], NC_000019.9:g.44080630AC[10], NC_000019.9:g.44080630AC[11], NC_000019.9:g.44080630AC[12], NC_000019.9:g.44080630AC[13], NG_033799.1:g.4085TG[6], NG_033799.1:g.4085TG[7], NG_033799.1:g.4085TG[8], NG_033799.1:g.4085TG[10], NG_033799.1:g.4085TG[11], NG_033799.1:g.4085TG[12], NG_033799.1:g.4085TG[13], NM_001193621.3:c.-519AC[6], NM_001193621.3:c.-519AC[7], NM_001193621.3:c.-519AC[8], NM_001193621.3:c.-519AC[10], NM_001193621.3:c.-519AC[11], NM_001193621.3:c.-519AC[12], NM_001193621.3:c.-519AC[13], XM_047438830.1:c.-642AC[6], XM_047438830.1:c.-642AC[7], XM_047438830.1:c.-642AC[8], XM_047438830.1:c.-642AC[10], XM_047438830.1:c.-642AC[11], XM_047438830.1:c.-642AC[12], XM_047438830.1:c.-642AC[13]

Select item 14912367697.

rs1491236769 has merged into rs58121949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43559490 (GRCh38)
19:44063642 (GRCh37)
Canonical SPDI:: NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43559479:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.43559490_43559503del, NC_000019.10:g.43559491_43559503del, NC_000019.10:g.43559492_43559503del, NC_000019.10:g.43559493_43559503del, NC_000019.10:g.43559495_43559503del, NC_000019.10:g.43559496_43559503del, NC_000019.10:g.43559498_43559503del, NC_000019.10:g.43559500_43559503del, NC_000019.10:g.43559501_43559503del, NC_000019.10:g.43559502_43559503del, NC_000019.10:g.43559503del, NC_000019.10:g.43559503dup, NC_000019.10:g.43559502_43559503dup, NC_000019.10:g.43559501_43559503dup, NC_000019.10:g.43559500_43559503dup, NC_000019.10:g.43559499_43559503dup, NC_000019.10:g.43559498_43559503dup, NC_000019.10:g.43559497_43559503dup, NC_000019.10:g.43559493_43559503dup, NC_000019.10:g.43559490_43559503dup, NC_000019.10:g.43559488_43559503dup, NC_000019.10:g.43559487_43559503dup, NC_000019.10:g.43559485_43559503dup, NC_000019.10:g.43559503_43559504insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.44063642_44063655del, NC_000019.9:g.44063643_44063655del, NC_000019.9:g.44063644_44063655del, NC_000019.9:g.44063645_44063655del, NC_000019.9:g.44063647_44063655del, NC_000019.9:g.44063648_44063655del, NC_000019.9:g.44063650_44063655del, NC_000019.9:g.44063652_44063655del, NC_000019.9:g.44063653_44063655del, NC_000019.9:g.44063654_44063655del, NC_000019.9:g.44063655del, NC_000019.9:g.44063655dup, NC_000019.9:g.44063654_44063655dup, NC_000019.9:g.44063653_44063655dup, NC_000019.9:g.44063652_44063655dup, NC_000019.9:g.44063651_44063655dup, NC_000019.9:g.44063650_44063655dup, NC_000019.9:g.44063649_44063655dup, NC_000019.9:g.44063645_44063655dup, NC_000019.9:g.44063642_44063655dup, NC_000019.9:g.44063640_44063655dup, NC_000019.9:g.44063639_44063655dup, NC_000019.9:g.44063637_44063655dup, NC_000019.9:g.44063655_44063656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033799.1:g.21086_21099del, NG_033799.1:g.21087_21099del, NG_033799.1:g.21088_21099del, NG_033799.1:g.21089_21099del, NG_033799.1:g.21091_21099del, NG_033799.1:g.21092_21099del, NG_033799.1:g.21094_21099del, NG_033799.1:g.21096_21099del, NG_033799.1:g.21097_21099del, NG_033799.1:g.21098_21099del, NG_033799.1:g.21099del, NG_033799.1:g.21099dup, NG_033799.1:g.21098_21099dup, NG_033799.1:g.21097_21099dup, NG_033799.1:g.21096_21099dup, NG_033799.1:g.21095_21099dup, NG_033799.1:g.21094_21099dup, NG_033799.1:g.21093_21099dup, NG_033799.1:g.21089_21099dup, NG_033799.1:g.21086_21099dup, NG_033799.1:g.21084_21099dup, NG_033799.1:g.21083_21099dup, NG_033799.1:g.21081_21099dup, NG_033799.1:g.21099_21100insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912031758.

rs1491203175 has merged into rs1203247615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43562158 (GRCh38)
19:44066310 (GRCh37)
Canonical SPDI:: NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43562145:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.43562158_43562165del, NC_000019.10:g.43562159_43562165del, NC_000019.10:g.43562162_43562165del, NC_000019.10:g.43562163_43562165del, NC_000019.10:g.43562164_43562165del, NC_000019.10:g.43562165del, NC_000019.10:g.43562165dup, NC_000019.10:g.43562164_43562165dup, NC_000019.10:g.43562163_43562165dup, NC_000019.10:g.43562162_43562165dup, NC_000019.10:g.43562161_43562165dup, NC_000019.10:g.43562160_43562165dup, NC_000019.9:g.44066310_44066317del, NC_000019.9:g.44066311_44066317del, NC_000019.9:g.44066314_44066317del, NC_000019.9:g.44066315_44066317del, NC_000019.9:g.44066316_44066317del, NC_000019.9:g.44066317del, NC_000019.9:g.44066317dup, NC_000019.9:g.44066316_44066317dup, NC_000019.9:g.44066315_44066317dup, NC_000019.9:g.44066314_44066317dup, NC_000019.9:g.44066313_44066317dup, NC_000019.9:g.44066312_44066317dup, NG_033799.1:g.18426_18433del, NG_033799.1:g.18427_18433del, NG_033799.1:g.18430_18433del, NG_033799.1:g.18431_18433del, NG_033799.1:g.18432_18433del, NG_033799.1:g.18433del, NG_033799.1:g.18433dup, NG_033799.1:g.18432_18433dup, NG_033799.1:g.18431_18433dup, NG_033799.1:g.18430_18433dup, NG_033799.1:g.18429_18433dup, NG_033799.1:g.18428_18433dup

Select item 14910769949.

rs1491076994 has merged into rs71169260 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:43547497 (GRCh38)
19:44051649 (GRCh37)
Canonical SPDI:: NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:43547485:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.24892/923 (TWINSUK)
-=0.255/1097 (1000Genomes)
-=0.26674/1028 (ALSPAC)
HGVS:: NC_000019.10:g.43547497_43547499del, NC_000019.10:g.43547498_43547499del, NC_000019.10:g.43547499del, NC_000019.10:g.43547499dup, NC_000019.10:g.43547498_43547499dup, NC_000019.10:g.43547497_43547499dup, NC_000019.10:g.43547492_43547499dup, NC_000019.9:g.44051649_44051651del, NC_000019.9:g.44051650_44051651del, NC_000019.9:g.44051651del, NC_000019.9:g.44051651dup, NC_000019.9:g.44051650_44051651dup, NC_000019.9:g.44051649_44051651dup, NC_000019.9:g.44051644_44051651dup, NG_033799.1:g.33091_33093del, NG_033799.1:g.33092_33093del, NG_033799.1:g.33093del, NG_033799.1:g.33093dup, NG_033799.1:g.33092_33093dup, NG_033799.1:g.33091_33093dup, NG_033799.1:g.33086_33093dup

Select item 149098786910.

rs1490987869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43559097 (GRCh38)
19:44063249 (GRCh37)
Canonical SPDI:: NC_000019.10:43559096:T:C
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43559097T>C, NC_000019.9:g.44063249T>C, NG_033799.1:g.21482A>G

Select item 149098074111.

rs1490980741 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43570477 (GRCh38)
19:44074629 (GRCh37)
Canonical SPDI:: NC_000019.10:43570476:GGG:GG
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43570479del, NC_000019.9:g.44074631del, NG_033799.1:g.10102del

Select item 149097303912.

rs1490973039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43561093 (GRCh38)
19:44065245 (GRCh37)
Canonical SPDI:: NC_000019.10:43561092:T:C
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43561093T>C, NC_000019.9:g.44065245T>C, NG_033799.1:g.19486A>G

Select item 149078107913.

rs1490781079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43563120 (GRCh38)
19:44067272 (GRCh37)
Canonical SPDI:: NC_000019.10:43563119:G:A
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43563120G>A, NC_000019.9:g.44067272G>A, NG_033799.1:g.17459C>T

Select item 149069822614.

rs1490698226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43548070 (GRCh38)
19:44052222 (GRCh37)
Canonical SPDI:: NC_000019.10:43548069:G:A,NC_000019.10:43548069:G:T
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43548070G>A, NC_000019.10:g.43548070G>T, NC_000019.9:g.44052222G>A, NC_000019.9:g.44052222G>T, NG_033799.1:g.32509C>T, NG_033799.1:g.32509C>A

Select item 149059344515.

rs1490593445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43550412 (GRCh38)
19:44054564 (GRCh37)
Canonical SPDI:: NC_000019.10:43550411:G:C
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43550412G>C, NC_000019.9:g.44054564G>C, NG_033799.1:g.30167C>G

Select item 149048150316.

rs1490481503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43562209 (GRCh38)
19:44066361 (GRCh37)
Canonical SPDI:: NC_000019.10:43562208:G:C
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.43562209G>C, NC_000019.9:g.44066361G>C, NG_033799.1:g.18370C>G

Select item 149043268317.

rs1490432683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43572109 (GRCh38)
19:44076261 (GRCh37)
Canonical SPDI:: NC_000019.10:43572108:G:A
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43572109G>A, NC_000019.9:g.44076261G>A, NG_033799.1:g.8470C>T

Select item 149037199918.

rs1490371999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43544015 (GRCh38)
19:44048167 (GRCh37)
Canonical SPDI:: NC_000019.10:43544014:C:T
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43544015C>T, NC_000019.9:g.44048167C>T, NG_033799.1:g.36564G>A

Select item 149027852419.

rs1490278524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43549875 (GRCh38)
19:44054027 (GRCh37)
Canonical SPDI:: NC_000019.10:43549874:C:T
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43549875C>T, NC_000019.9:g.44054027C>T, NG_033799.1:g.30704G>A

Select item 149027659920.

rs1490276599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43553577 (GRCh38)
19:44057729 (GRCh37)
Canonical SPDI:: NC_000019.10:43553576:G:A
Gene:: XRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43553577G>A, NC_000019.9:g.44057729G>A, NG_033799.1:g.27002C>T

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