SNP Links for Gene (Select 29071) - SNP

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Select item 14915061411.

rs1491506141 has merged into rs1167333481 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:120631297 (GRCh38)
X:119765152 (GRCh37)
Canonical SPDI:: NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120631289:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.120631297_120631309del, NC_000023.11:g.120631300_120631309del, NC_000023.11:g.120631303_120631309del, NC_000023.11:g.120631304_120631309del, NC_000023.11:g.120631305_120631309del, NC_000023.11:g.120631307_120631309del, NC_000023.11:g.120631308_120631309del, NC_000023.11:g.120631309del, NC_000023.11:g.120631309dup, NC_000023.11:g.120631308_120631309dup, NC_000023.11:g.120631307_120631309dup, NC_000023.11:g.120631306_120631309dup, NC_000023.10:g.119765152_119765164del, NC_000023.10:g.119765155_119765164del, NC_000023.10:g.119765158_119765164del, NC_000023.10:g.119765159_119765164del, NC_000023.10:g.119765160_119765164del, NC_000023.10:g.119765162_119765164del, NC_000023.10:g.119765163_119765164del, NC_000023.10:g.119765164del, NC_000023.10:g.119765164dup, NC_000023.10:g.119765163_119765164dup, NC_000023.10:g.119765162_119765164dup, NC_000023.10:g.119765161_119765164dup, NG_016219.1:g.3849_3861del, NG_016219.1:g.3852_3861del, NG_016219.1:g.3855_3861del, NG_016219.1:g.3856_3861del, NG_016219.1:g.3857_3861del, NG_016219.1:g.3859_3861del, NG_016219.1:g.3860_3861del, NG_016219.1:g.3861del, NG_016219.1:g.3861dup, NG_016219.1:g.3860_3861dup, NG_016219.1:g.3859_3861dup, NG_016219.1:g.3858_3861dup, NW_021160027.1:g.31365_31377del, NW_021160027.1:g.31368_31377del, NW_021160027.1:g.31371_31377del, NW_021160027.1:g.31372_31377del, NW_021160027.1:g.31373_31377del, NW_021160027.1:g.31375_31377del, NW_021160027.1:g.31376_31377del, NW_021160027.1:g.31377del, NW_021160027.1:g.31377dup, NW_021160027.1:g.31376_31377dup, NW_021160027.1:g.31375_31377dup, NW_021160027.1:g.31374_31377dup

Select item 14914845732.

rs1491484573 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:120631290 (GRCh38)
X:119765146 (GRCh37)
Canonical SPDI:: NC_000023.11:120631290::C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
C=0.00017/9 (GnomAD)
HGVS:: NC_000023.11:g.120631290_120631291insC, NC_000023.10:g.119765145_119765146insC, NG_016219.1:g.3860_3861insG, NW_021160027.1:g.31358_31359insC

Select item 14914200063.

rs1491420006 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:120630942 (GRCh38)
X:119764798 (GRCh37)
Canonical SPDI:: NC_000023.11:120630942::C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00021/5 (GnomAD)
HGVS:: NC_000023.11:g.120630942_120630943insC, NC_000023.10:g.119764797_119764798insC, NG_016219.1:g.4208_4209insG, NW_021160027.1:g.31010_31011insC

Select item 14913396624.

rs1491339662 has merged into rs58134554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: X:120630955 (GRCh38)
X:119764810 (GRCh37)
Canonical SPDI:: NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:120630941:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.375/3 (KOREAN)
T=0.4313/1628 (1000Genomes)
HGVS:: NC_000023.11:g.120630955_120630957del, NC_000023.11:g.120630956_120630957del, NC_000023.11:g.120630957del, NC_000023.11:g.120630957dup, NC_000023.11:g.120630956_120630957dup, NC_000023.11:g.120630955_120630957dup, NC_000023.10:g.119764810_119764812del, NC_000023.10:g.119764811_119764812del, NC_000023.10:g.119764812del, NC_000023.10:g.119764812dup, NC_000023.10:g.119764811_119764812dup, NC_000023.10:g.119764810_119764812dup, NG_016219.1:g.4207_4209del, NG_016219.1:g.4208_4209del, NG_016219.1:g.4209del, NG_016219.1:g.4209dup, NG_016219.1:g.4208_4209dup, NG_016219.1:g.4207_4209dup, NW_021160027.1:g.31023_31025del, NW_021160027.1:g.31024_31025del, NW_021160027.1:g.31025del, NW_021160027.1:g.31025dup, NW_021160027.1:g.31024_31025dup, NW_021160027.1:g.31023_31025dup

Select item 14908149595.

rs1490814959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:120629697 (GRCh38)
X:119763552 (GRCh37)
Canonical SPDI:: NC_000023.11:120629696:T:A
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.120629697T>A, NC_000023.10:g.119763552T>A, NG_016219.1:g.5454A>T, NW_021160027.1:g.29765T>A

Select item 14898553436.

rs1489855343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:120631585 (GRCh38)
X:119765440 (GRCh37)
Canonical SPDI:: NC_000023.11:120631584:C:A,NC_000023.11:120631584:C:T
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.120631585C>A, NC_000023.11:g.120631585C>T, NC_000023.10:g.119765440C>A, NC_000023.10:g.119765440C>T, NG_016219.1:g.3566G>T, NG_016219.1:g.3566G>A, NW_021160027.1:g.31653C>A, NW_021160027.1:g.31653C>T

Select item 14891120157.

rs1489112015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:120629096 (GRCh38)
X:119762951 (GRCh37)
Canonical SPDI:: NC_000023.11:120629095:A:C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.00081/10 (TOMMO)
C=0.001029/3 (KOREAN)
HGVS:: NC_000023.11:g.120629096A>C, NC_000023.10:g.119762951A>C, NG_016219.1:g.6055T>G, NW_021160027.1:g.29164A>C

Select item 14884149358.

rs1488414935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:120632014 (GRCh38)
X:119765869 (GRCh37)
Canonical SPDI:: NC_000023.11:120632013:C:T
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.120632014C>T, NC_000023.10:g.119765869C>T, NG_016219.1:g.3137G>A, NW_021160027.1:g.32082C>T

Select item 14883270459.

rs1488327045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:120625657 (GRCh38)
X:119759513 (GRCh37)
Canonical SPDI:: NC_000023.11:120625657:TTTTTTTT:TTTTTTTTT
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.000029/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.120625665dup, NC_000023.10:g.119759520dup, NG_016219.1:g.9493dup, NW_021160027.1:g.25733dup

Select item 148815059610.

rs1488150596 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATT>- [Show Flanks]
Chromosome:: X:120625694 (GRCh38)
X:119759549 (GRCh37)
Canonical SPDI:: NC_000023.11:120625691:TTAATT:TT
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.120625694_120625697del, NC_000023.10:g.119759549_119759552del, NG_016219.1:g.9456_9459del, NM_152692.5:c.*515_*518del, NM_152692.4:c.*515_*518del, NM_001011551.3:c.*515_*518del, NM_001011551.2:c.*515_*518del, NW_021160027.1:g.25762_25765del

Select item 148693793911.

rs1486937939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: X:120625982 (GRCh38)
X:119759837 (GRCh37)
Canonical SPDI:: NC_000023.11:120625975:ATTATTATT:ATTATT
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATT=0./0 (ALFA)
-=0.000049/13 (TOPMED)
-=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.120625976ATT[2], NC_000023.10:g.119759831ATT[2], NG_016219.1:g.9167AAT[2], NM_152692.5:c.*226AAT[2], NM_152692.4:c.*226AAT[2], NM_001011551.3:c.*226AAT[2], NM_001011551.2:c.*226AAT[2], NW_021160027.1:g.26044ATT[2], NM_014158.1:c.*226AAT[2]

Select item 148685933012.

rs1486859330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:120625450 (GRCh38)
X:119759305 (GRCh37)
Canonical SPDI:: NC_000023.11:120625449:G:A
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.120625450G>A, NC_000023.10:g.119759305G>A, NG_016219.1:g.9701C>T, NW_021160027.1:g.25518G>A

Select item 148627809013.

rs1486278090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:120626417 (GRCh38)
X:119760272 (GRCh37)
Canonical SPDI:: NC_000023.11:120626416:A:C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.120626417A>C, NC_000023.10:g.119760272A>C, NG_016219.1:g.8734T>G, NM_152692.5:c.750T>G, NM_152692.4:c.750T>G, NM_001011551.3:c.750T>G, NM_001011551.2:c.750T>G, NW_021160027.1:g.26485A>C, NM_014158.1:c.645T>G

Select item 148598538814.

rs1485985388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:120626867 (GRCh38)
X:119760722 (GRCh37)
Canonical SPDI:: NC_000023.11:120626866:G:A
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.120626867G>A, NC_000023.10:g.119760722G>A, NG_016219.1:g.8284C>T, NM_152692.5:c.300C>T, NM_152692.4:c.300C>T, NM_001011551.3:c.300C>T, NM_001011551.2:c.300C>T, NW_021160027.1:g.26935G>A, NM_014158.1:c.195C>T

Select item 148594971915.

rs1485949719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:120625525 (GRCh38)
X:119759380 (GRCh37)
Canonical SPDI:: NC_000023.11:120625524:T:C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.120625525T>C, NC_000023.10:g.119759380T>C, NG_016219.1:g.9626A>G, NW_021160027.1:g.25593T>C

Select item 148496656616.

rs1484966566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:120630484 (GRCh38)
X:119764339 (GRCh37)
Canonical SPDI:: NC_000023.11:120630483:T:A
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.120630484T>A, NC_000023.10:g.119764339T>A, NG_016219.1:g.4667A>T, NW_021160027.1:g.30552T>A

Select item 148351958917.

rs1483519589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:120629721 (GRCh38)
X:119763576 (GRCh37)
Canonical SPDI:: NC_000023.11:120629720:G:A
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000087/23 (TOPMED)
A=0.000125/13 (GnomAD)
HGVS:: NC_000023.11:g.120629721G>A, NC_000023.10:g.119763576G>A, NG_016219.1:g.5430C>T, NW_021160027.1:g.29789G>A

Select item 148333355218.

rs1483333552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:120628531 (GRCh38)
X:119762386 (GRCh37)
Canonical SPDI:: NC_000023.11:120628530:T:G
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.120628531T>G, NC_000023.10:g.119762386T>G, NG_016219.1:g.6620A>C, NW_021160027.1:g.28599T>G

Select item 148310244419.

rs1483102444 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: X:120627804 (GRCh38)
X:119761659 (GRCh37)
Canonical SPDI:: NC_000023.11:120627799:ATAATAA:ATAA
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.120627801TAA[1], NC_000023.10:g.119761656TAA[1], NG_016219.1:g.7346TAT[1], NW_021160027.1:g.27869TAA[1]

Select item 148270500420.

rs1482705004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:120631154 (GRCh38)
X:119765009 (GRCh37)
Canonical SPDI:: NC_000023.11:120631153:T:C
Gene:: C1GALT1C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0016/7 (ALFA)
HGVS:: NC_000023.11:g.120631154T>C, NC_000023.10:g.119765009T>C, NG_016219.1:g.3997A>G, NW_021160027.1:g.31222T>C

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