SNP Links for Gene (Select 2587) - SNP

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Select item 14913432751.

rs1491343275 has merged into rs35156015 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 18:77261012 (GRCh38)
18:74972968 (GRCh37)
Canonical SPDI:: NC_000018.10:77261000:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:77261000:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:77261000:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:77261000:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:77261000:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2704/1042 (ALSPAC)
T=0.4417/2212 (1000Genomes)
HGVS:: NC_000018.10:g.77261012_77261014del, NC_000018.10:g.77261013_77261014del, NC_000018.10:g.77261014del, NC_000018.10:g.77261014dup, NC_000018.10:g.77261013_77261014dup, NC_000018.9:g.74972968_74972970del, NC_000018.9:g.74972969_74972970del, NC_000018.9:g.74972970del, NC_000018.9:g.74972970dup, NC_000018.9:g.74972969_74972970dup, NG_009223.1:g.15961_15963del, NG_009223.1:g.15962_15963del, NG_009223.1:g.15963del, NG_009223.1:g.15963dup, NG_009223.1:g.15962_15963dup

Select item 14913119402.

rs1491311940 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:77261001 (GRCh38)
18:74972958 (GRCh37)
Canonical SPDI:: NC_000018.10:77261001::G
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.0016/2 (GnomAD)
HGVS:: NC_000018.10:g.77261001_77261002insG, NC_000018.9:g.74972957_74972958insG, NG_009223.1:g.15950_15951insG

Select item 14913020093.

rs1491302009 has merged into rs55974947 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:77248328 (GRCh38)
18:74960284 (GRCh37)
Canonical SPDI:: NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GALR1 (Varview), LOC124904329 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.77248328_77248341del, NC_000018.10:g.77248329_77248341del, NC_000018.10:g.77248330_77248341del, NC_000018.10:g.77248331_77248341del, NC_000018.10:g.77248332_77248341del, NC_000018.10:g.77248333_77248341del, NC_000018.10:g.77248334_77248341del, NC_000018.10:g.77248335_77248341del, NC_000018.10:g.77248336_77248341del, NC_000018.10:g.77248337_77248341del, NC_000018.10:g.77248338_77248341del, NC_000018.10:g.77248339_77248341del, NC_000018.10:g.77248340_77248341del, NC_000018.10:g.77248341del, NC_000018.10:g.77248341dup, NC_000018.10:g.77248340_77248341dup, NC_000018.10:g.77248339_77248341dup, NC_000018.10:g.77248338_77248341dup, NC_000018.10:g.77248337_77248341dup, NC_000018.10:g.77248336_77248341dup, NC_000018.10:g.77248335_77248341dup, NC_000018.10:g.77248334_77248341dup, NC_000018.10:g.77248333_77248341dup, NC_000018.10:g.77248332_77248341dup, NC_000018.10:g.77248331_77248341dup, NC_000018.10:g.77248327_77248341dup, NC_000018.10:g.77248325_77248341dup, NC_000018.10:g.77248324_77248341dup, NC_000018.10:g.77248322_77248341dup, NC_000018.10:g.77248321_77248341dup, NC_000018.10:g.77248320_77248341dup, NC_000018.10:g.77248319_77248341dup, NC_000018.10:g.77248317_77248341dup, NC_000018.10:g.77248316_77248341dup, NC_000018.10:g.77248341_77248342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.77248316_77248341A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.74960284_74960297del, NC_000018.9:g.74960285_74960297del, NC_000018.9:g.74960286_74960297del, NC_000018.9:g.74960287_74960297del, NC_000018.9:g.74960288_74960297del, NC_000018.9:g.74960289_74960297del, NC_000018.9:g.74960290_74960297del, NC_000018.9:g.74960291_74960297del, NC_000018.9:g.74960292_74960297del, NC_000018.9:g.74960293_74960297del, NC_000018.9:g.74960294_74960297del, NC_000018.9:g.74960295_74960297del, NC_000018.9:g.74960296_74960297del, NC_000018.9:g.74960297del, NC_000018.9:g.74960297dup, NC_000018.9:g.74960296_74960297dup, NC_000018.9:g.74960295_74960297dup, NC_000018.9:g.74960294_74960297dup, NC_000018.9:g.74960293_74960297dup, NC_000018.9:g.74960292_74960297dup, NC_000018.9:g.74960291_74960297dup, NC_000018.9:g.74960290_74960297dup, NC_000018.9:g.74960289_74960297dup, NC_000018.9:g.74960288_74960297dup, NC_000018.9:g.74960287_74960297dup, NC_000018.9:g.74960283_74960297dup, NC_000018.9:g.74960281_74960297dup, NC_000018.9:g.74960280_74960297dup, NC_000018.9:g.74960278_74960297dup, NC_000018.9:g.74960277_74960297dup, NC_000018.9:g.74960276_74960297dup, NC_000018.9:g.74960275_74960297dup, NC_000018.9:g.74960273_74960297dup, NC_000018.9:g.74960272_74960297dup, NC_000018.9:g.74960297_74960298insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.74960272_74960297A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009223.1:g.3277_3290del, NG_009223.1:g.3278_3290del, NG_009223.1:g.3279_3290del, NG_009223.1:g.3280_3290del, NG_009223.1:g.3281_3290del, NG_009223.1:g.3282_3290del, NG_009223.1:g.3283_3290del, NG_009223.1:g.3284_3290del, NG_009223.1:g.3285_3290del, NG_009223.1:g.3286_3290del, NG_009223.1:g.3287_3290del, NG_009223.1:g.3288_3290del, NG_009223.1:g.3289_3290del, NG_009223.1:g.3290del, NG_009223.1:g.3290dup, NG_009223.1:g.3289_3290dup, NG_009223.1:g.3288_3290dup, NG_009223.1:g.3287_3290dup, NG_009223.1:g.3286_3290dup, NG_009223.1:g.3285_3290dup, NG_009223.1:g.3284_3290dup, NG_009223.1:g.3283_3290dup, NG_009223.1:g.3282_3290dup, NG_009223.1:g.3281_3290dup, NG_009223.1:g.3280_3290dup, NG_009223.1:g.3276_3290dup, NG_009223.1:g.3274_3290dup, NG_009223.1:g.3273_3290dup, NG_009223.1:g.3271_3290dup, NG_009223.1:g.3270_3290dup, NG_009223.1:g.3269_3290dup, NG_009223.1:g.3268_3290dup, NG_009223.1:g.3266_3290dup, NG_009223.1:g.3265_3290dup, NG_009223.1:g.3290_3291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009223.1:g.3265_3290A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009223.1:g.3265_3290A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009223.1:g.3265_3290A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009223.1:g.3265_3290A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009223.1:g.3265_3290A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XR_007066422.1:n.1833_1846del, XR_007066422.1:n.1834_1846del, XR_007066422.1:n.1835_1846del, XR_007066422.1:n.1836_1846del, XR_007066422.1:n.1837_1846del, XR_007066422.1:n.1838_1846del, XR_007066422.1:n.1839_1846del, XR_007066422.1:n.1840_1846del, XR_007066422.1:n.1841_1846del, XR_007066422.1:n.1842_1846del, XR_007066422.1:n.1843_1846del, XR_007066422.1:n.1844_1846del, XR_007066422.1:n.1845_1846del, XR_007066422.1:n.1846del, XR_007066422.1:n.1846dup, XR_007066422.1:n.1845_1846dup, XR_007066422.1:n.1844_1846dup, XR_007066422.1:n.1843_1846dup, XR_007066422.1:n.1842_1846dup, XR_007066422.1:n.1841_1846dup, XR_007066422.1:n.1840_1846dup, XR_007066422.1:n.1839_1846dup, XR_007066422.1:n.1838_1846dup, XR_007066422.1:n.1837_1846dup, XR_007066422.1:n.1836_1846dup, XR_007066422.1:n.1832_1846dup, XR_007066422.1:n.1830_1846dup, XR_007066422.1:n.1829_1846dup, XR_007066422.1:n.1827_1846dup, XR_007066422.1:n.1826_1846dup, XR_007066422.1:n.1825_1846dup, XR_007066422.1:n.1824_1846dup, XR_007066422.1:n.1822_1846dup, XR_007066422.1:n.1821_1846dup, XR_007066422.1:n.1846_1847insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_007066422.1:n.1821_1846T[38]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XR_007066422.1:n.1821_1846T[37]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XR_007066422.1:n.1821_1846T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XR_007066422.1:n.1821_1846T[36]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XR_007066422.1:n.1821_1846T[56]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14912038884.

rs1491203888 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:77248315 (GRCh38)
18:74960271 (GRCh37)
Canonical SPDI:: NC_000018.10:77248314:CA:
Gene:: GALR1 (Varview), LOC124904329 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/1 (GnomAD)
HGVS:: NC_000018.10:g.77248315_77248316del, NC_000018.9:g.74960271_74960272del, NG_009223.1:g.3264_3265del, XR_007066422.1:n.1846_1847del

Select item 14909153565.

rs1490915356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:77265836 (GRCh38)
18:74977792 (GRCh37)
Canonical SPDI:: NC_000018.10:77265835:A:C
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.77265836A>C, NC_000018.9:g.74977792A>C, NG_009223.1:g.20785A>C

Select item 14908495636.

rs1490849563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:77264849 (GRCh38)
18:74976805 (GRCh37)
Canonical SPDI:: NC_000018.10:77264848:T:C
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.77264849T>C, NC_000018.9:g.74976805T>C, NG_009223.1:g.19798T>C

Select item 14907276837.

rs1490727683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:77259189 (GRCh38)
18:74971145 (GRCh37)
Canonical SPDI:: NC_000018.10:77259188:G:A,NC_000018.10:77259188:G:T
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.77259189G>A, NC_000018.10:g.77259189G>T, NC_000018.9:g.74971145G>A, NC_000018.9:g.74971145G>T, NG_009223.1:g.14138G>A, NG_009223.1:g.14138G>T

Select item 14907023058.

rs1490702305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGG>- [Show Flanks]
Chromosome:: 18:77258988 (GRCh38)
18:74970944 (GRCh37)
Canonical SPDI:: NC_000018.10:77258984:TGGATGG:TGG
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGG=0.00067/8 (ALFA)
HGVS:: NC_000018.10:g.77258988_77258991del, NC_000018.9:g.74970944_74970947del, NG_009223.1:g.13937_13940del

Select item 14905650369.

rs1490565036 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 18:77259103 (GRCh38)
18:74971059 (GRCh37)
Canonical SPDI:: NC_000018.10:77259102:A:
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.77259103del, NC_000018.9:g.74971059del, NG_009223.1:g.14052del

Select item 149054007310.

rs1490540073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:77258893 (GRCh38)
18:74970849 (GRCh37)
Canonical SPDI:: NC_000018.10:77258892:G:A
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.77258893G>A, NC_000018.9:g.74970849G>A, NG_009223.1:g.13842G>A

Select item 149047133211.

rs1490471332 [Homo sapiens]

Variant type:: DEL
Alleles:: TCAAAAAAA>- [Show Flanks]
Chromosome:: 18:77264132 (GRCh38)
18:74976088 (GRCh37)
Canonical SPDI:: NC_000018.10:77264131:TCAAAAAAA:
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.77264132_77264140del, NC_000018.9:g.74976088_74976096del, NG_009223.1:g.19081_19089del

Select item 149033335012.

rs1490333350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:77255606 (GRCh38)
18:74967562 (GRCh37)
Canonical SPDI:: NC_000018.10:77255605:C:T
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.77255606C>T, NC_000018.9:g.74967562C>T, NG_009223.1:g.10555C>T

Select item 149031711013.

rs1490317110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:77253486 (GRCh38)
18:74965442 (GRCh37)
Canonical SPDI:: NC_000018.10:77253485:C:T
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000283/5 (TOMMO)
HGVS:: NC_000018.10:g.77253486C>T, NC_000018.9:g.74965442C>T, NG_009223.1:g.8435C>T

Select item 149023705514.

rs1490237055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:77259285 (GRCh38)
18:74971241 (GRCh37)
Canonical SPDI:: NC_000018.10:77259284:T:C
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.77259285T>C, NC_000018.9:g.74971241T>C, NG_009223.1:g.14234T>C

Select item 149012960115.

rs1490129601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:77269092 (GRCh38)
18:74981048 (GRCh37)
Canonical SPDI:: NC_000018.10:77269091:A:G
Gene:: GALR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.77269092A>G, NC_000018.9:g.74981048A>G, NG_009223.1:g.24041A>G, NM_001480.3:c.*190A>G, NM_001480.4:c.*190A>G

Select item 149011439016.

rs1490114390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:77266912 (GRCh38)
18:74978868 (GRCh37)
Canonical SPDI:: NC_000018.10:77266911:T:G
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.77266912T>G, NC_000018.9:g.74978868T>G, NG_009223.1:g.21861T>G

Select item 149000637817.

rs1490006378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:77264341 (GRCh38)
18:74976297 (GRCh37)
Canonical SPDI:: NC_000018.10:77264340:T:C
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.77264341T>C, NC_000018.9:g.74976297T>C, NG_009223.1:g.19290T>C

Select item 148987733218.

rs1489877332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:77254642 (GRCh38)
18:74966598 (GRCh37)
Canonical SPDI:: NC_000018.10:77254641:T:C
Gene:: GALR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.77254642T>C, NC_000018.9:g.74966598T>C, NG_009223.1:g.9591T>C

Select item 148979089419.

rs1489790894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:77270378 (GRCh38)
18:74982334 (GRCh37)
Canonical SPDI:: NC_000018.10:77270377:G:A
Gene:: GALR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.77270378G>A, NC_000018.9:g.74982334G>A, NG_009223.1:g.25327G>A, NM_001480.4:c.*1476G>A

Select item 148978137820.

rs1489781378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:77253317 (GRCh38)
18:74965273 (GRCh37)
Canonical SPDI:: NC_000018.10:77253316:T:C
Gene:: GALR1 (Varview), LOC124904329 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.77253317T>C, NC_000018.9:g.74965273T>C, NG_009223.1:g.8266T>C

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