SNP Links for Gene (Select 3683) - SNP

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Select item 14915649891.

rs1491564989 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:30500559 (GRCh38)
16:30511881 (GRCh37)
Canonical SPDI:: NC_000016.10:30500559:TTTTTTT:TTTTTTTT
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30500566dup, NC_000016.9:g.30511887dup

Select item 14915422772.

rs1491542277 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTATATATATATACATATATATAT [Show Flanks]
Chromosome:: 16:30499714 (GRCh38)
16:30511036 (GRCh37)
Canonical SPDI:: NC_000016.10:30499714:ATATATATAT:ATATATATATGTGTATATATATATACATATATATAT
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: ATATATATATGTGTATATATATATAC=0.00012/12 (GnomAD)
HGVS:: NC_000016.10:g.30499715_30499724AT[5]GT[2]AT[5]ACATATATATAT[1], NC_000016.9:g.30511036_30511045AT[5]GT[2]AT[5]ACATATATATAT[1]

Select item 14915334983.

rs1491533498 has merged into rs1193634387 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30499743 (GRCh38)
16:30511064 (GRCh37)
Canonical SPDI:: NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30499733:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTT=0.000004/1 (TOPMED)
T=0.010601/6 (NorthernSweden)
HGVS:: NC_000016.10:g.30499743_30499746del, NC_000016.10:g.30499744_30499746del, NC_000016.10:g.30499745_30499746del, NC_000016.10:g.30499746del, NC_000016.10:g.30499746dup, NC_000016.10:g.30499745_30499746dup, NC_000016.10:g.30499744_30499746dup, NC_000016.10:g.30499743_30499746dup, NC_000016.10:g.30499742_30499746dup, NC_000016.10:g.30499741_30499746dup, NC_000016.10:g.30499740_30499746dup, NC_000016.10:g.30499739_30499746dup, NC_000016.10:g.30499738_30499746dup, NC_000016.10:g.30499737_30499746dup, NC_000016.10:g.30499736_30499746dup, NC_000016.10:g.30499735_30499746dup, NC_000016.9:g.30511064_30511067del, NC_000016.9:g.30511065_30511067del, NC_000016.9:g.30511066_30511067del, NC_000016.9:g.30511067del, NC_000016.9:g.30511067dup, NC_000016.9:g.30511066_30511067dup, NC_000016.9:g.30511065_30511067dup, NC_000016.9:g.30511064_30511067dup, NC_000016.9:g.30511063_30511067dup, NC_000016.9:g.30511062_30511067dup, NC_000016.9:g.30511061_30511067dup, NC_000016.9:g.30511060_30511067dup, NC_000016.9:g.30511059_30511067dup, NC_000016.9:g.30511058_30511067dup, NC_000016.9:g.30511057_30511067dup, NC_000016.9:g.30511056_30511067dup

Select item 14915284454.

rs1491528445 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 16:30481183 (GRCh38)
16:30492504 (GRCh37)
Canonical SPDI:: NC_000016.10:30481182:CC:
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.033/127 (ALSPAC)
-=0.0345/128 (TWINSUK)
HGVS:: NC_000016.10:g.30481183_30481184del, NC_000016.9:g.30492504_30492505del

Select item 14915256715.

rs1491525671 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:30490227 (GRCh38)
16:30501548 (GRCh37)
Canonical SPDI:: NC_000016.10:30490226:TA:
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004215/50 (ALFA)
-=0.000117/2 (TOMMO)
-=0.005751/609 (GnomAD)
HGVS:: NC_000016.10:g.30490227_30490228del, NC_000016.9:g.30501548_30501549del

Select item 14914971746.

rs1491497174 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:30485678 (GRCh38)
16:30496999 (GRCh37)
Canonical SPDI:: NC_000016.10:30485677:AT:
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000016.10:g.30485678_30485679del, NC_000016.9:g.30496999_30497000del

Select item 14914542537.

rs1491454253 has merged into rs71149031 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:30490239 (GRCh38)
16:30501560 (GRCh37)
Canonical SPDI:: NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30490227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.30490239_30490247del, NC_000016.10:g.30490244_30490247del, NC_000016.10:g.30490245_30490247del, NC_000016.10:g.30490246_30490247del, NC_000016.10:g.30490247del, NC_000016.10:g.30490247dup, NC_000016.10:g.30490246_30490247dup, NC_000016.10:g.30490245_30490247dup, NC_000016.10:g.30490244_30490247dup, NC_000016.10:g.30490243_30490247dup, NC_000016.9:g.30501560_30501568del, NC_000016.9:g.30501565_30501568del, NC_000016.9:g.30501566_30501568del, NC_000016.9:g.30501567_30501568del, NC_000016.9:g.30501568del, NC_000016.9:g.30501568dup, NC_000016.9:g.30501567_30501568dup, NC_000016.9:g.30501566_30501568dup, NC_000016.9:g.30501565_30501568dup, NC_000016.9:g.30501564_30501568dup

Select item 14914507388.

rs1491450738 has merged into rs60648321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30485692 (GRCh38)
16:30497013 (GRCh37)
Canonical SPDI:: NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30485678:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITGAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0899/450 (1000Genomes)
HGVS:: NC_000016.10:g.30485692_30485695del, NC_000016.10:g.30485693_30485695del, NC_000016.10:g.30485694_30485695del, NC_000016.10:g.30485695del, NC_000016.10:g.30485695dup, NC_000016.10:g.30485694_30485695dup, NC_000016.10:g.30485689_30485695dup, NC_000016.10:g.30485688_30485695dup, NC_000016.10:g.30485687_30485695dup, NC_000016.9:g.30497013_30497016del, NC_000016.9:g.30497014_30497016del, NC_000016.9:g.30497015_30497016del, NC_000016.9:g.30497016del, NC_000016.9:g.30497016dup, NC_000016.9:g.30497015_30497016dup, NC_000016.9:g.30497010_30497016dup, NC_000016.9:g.30497009_30497016dup, NC_000016.9:g.30497008_30497016dup

Select item 14911361689.

rs1491136168 has merged into rs1264687976 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 16:30499729 (GRCh38)
16:30511050 (GRCh37)
Canonical SPDI:: NC_000016.10:30499713:TATATATATATATATATATAT:TATATATATATATAT,NC_000016.10:30499713:TATATATATATATATATATAT:TATATATATATATATAT,NC_000016.10:30499713:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000016.10:30499713:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000016.10:30499713:TATATATATATATATATATAT:TATATATATATATATATATATATAT
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000016.10:g.30499715AT[7], NC_000016.10:g.30499715AT[8], NC_000016.10:g.30499715AT[9], NC_000016.10:g.30499715AT[11], NC_000016.10:g.30499715AT[12], NC_000016.9:g.30511036AT[7], NC_000016.9:g.30511036AT[8], NC_000016.9:g.30511036AT[9], NC_000016.9:g.30511036AT[11], NC_000016.9:g.30511036AT[12]

Select item 149110822310.

rs1491108223 has merged into rs71149035 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 16:30502828 (GRCh38)
16:30514149 (GRCh37)
Canonical SPDI:: NC_000016.10:30502817:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30502817:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30502817:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30502817:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30502817:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ITGAL (Varview), MIR4518 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.002566/43 (TOMMO)
HGVS:: NC_000016.10:g.30502828_30502831del, NC_000016.10:g.30502830_30502831del, NC_000016.10:g.30502831del, NC_000016.10:g.30502831dup, NC_000016.10:g.30502830_30502831dup, NC_000016.9:g.30514149_30514152del, NC_000016.9:g.30514151_30514152del, NC_000016.9:g.30514152del, NC_000016.9:g.30514152dup, NC_000016.9:g.30514151_30514152dup

Select item 149105989811.

rs1491059898 has merged into rs542213432 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 16:30509189 (GRCh38)
16:30520510 (GRCh37)
Canonical SPDI:: NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:30509176:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.04478/220 (1000Genomes)
HGVS:: NC_000016.10:g.30509189_30509192del, NC_000016.10:g.30509190_30509192del, NC_000016.10:g.30509191_30509192del, NC_000016.10:g.30509192del, NC_000016.10:g.30509192dup, NC_000016.10:g.30509191_30509192dup, NC_000016.9:g.30520510_30520513del, NC_000016.9:g.30520511_30520513del, NC_000016.9:g.30520512_30520513del, NC_000016.9:g.30520513del, NC_000016.9:g.30520513dup, NC_000016.9:g.30520512_30520513dup

Select item 149097567712.

rs1490975677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:30475404 (GRCh38)
16:30486725 (GRCh37)
Canonical SPDI:: NC_000016.10:30475403:A:T
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.30475404A>T, NC_000016.9:g.30486725A>T

Select item 149086537113.

rs1490865371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30491349 (GRCh38)
16:30502670 (GRCh37)
Canonical SPDI:: NC_000016.10:30491348:C:T
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30491349C>T, NC_000016.9:g.30502670C>T

Select item 149084887014.

rs1490848870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30476306 (GRCh38)
16:30487627 (GRCh37)
Canonical SPDI:: NC_000016.10:30476305:G:A,NC_000016.10:30476305:G:T
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30476306G>A, NC_000016.10:g.30476306G>T, NC_000016.9:g.30487627G>A, NC_000016.9:g.30487627G>T

Select item 149084388315.

rs1490843883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:30499526 (GRCh38)
16:30510847 (GRCh37)
Canonical SPDI:: NC_000016.10:30499525:C:A,NC_000016.10:30499525:C:T
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30499526C>A, NC_000016.10:g.30499526C>T, NC_000016.9:g.30510847C>A, NC_000016.9:g.30510847C>T

Select item 149079742416.

rs1490797424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30498661 (GRCh38)
16:30509982 (GRCh37)
Canonical SPDI:: NC_000016.10:30498660:G:T
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30498661G>T, NC_000016.9:g.30509982G>T

Select item 149064048817.

rs1490640488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30497414 (GRCh38)
16:30508735 (GRCh37)
Canonical SPDI:: NC_000016.10:30497413:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.30497414G>A, NC_000016.9:g.30508735G>A

Select item 149063276518.

rs1490632765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30484873 (GRCh38)
16:30496194 (GRCh37)
Canonical SPDI:: NC_000016.10:30484872:G:A
Gene:: ITGAL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.30484873G>A, NC_000016.9:g.30496194G>A

Select item 149056259519.

rs1490562595 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCTC>- [Show Flanks]
Chromosome:: 16:30514180 (GRCh38)
16:30525501 (GRCh37)
Canonical SPDI:: NC_000016.10:30514176:CTCGGCTC:CTC
Gene:: ITGAL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30514180_30514184del, NC_000016.9:g.30525501_30525505del

Select item 149052271720.

rs1490522717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30496113 (GRCh38)
16:30507434 (GRCh37)
Canonical SPDI:: NC_000016.10:30496112:T:C
Gene:: ITGAL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.0007/2 (KOREAN)
HGVS:: NC_000016.10:g.30496113T>C, NC_000016.9:g.30507434T>C, NM_002209.3:c.1520T>C, NM_002209.2:c.1520T>C, XM_006721044.2:c.1271T>C, XM_006721044.1:c.1271T>C, NM_001114380.2:c.1271T>C, NM_001114380.1:c.1271T>C, XR_950794.2:n.1616T>C, XR_950794.1:n.1616T>C, XM_005255313.1:c.1520T>C, XM_047434073.1:c.536T>C, XM_047434072.1:c.536T>C, NP_002200.2:p.Val507Ala, XP_006721107.1:p.Val424Ala, NP_001107852.1:p.Val424Ala, XP_005255370.1:p.Val507Ala, XP_047290029.1:p.Val179Ala, XP_047290028.1:p.Val179Ala

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