SNP Links for Gene (Select 158401) - SNP

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Select item 14915537701.

rs1491553770 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 9:111737703 (GRCh38)
9:114499983 (GRCh37)
Canonical SPDI:: NC_000009.12:111737698:CACACACA:CACA,NC_000009.12:111737698:CACACACA:CACACA,NC_000009.12:111737698:CACACACA:CACACACACA
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111737699CA[2], NC_000009.12:g.111737699CA[3], NC_000009.12:g.111737699CA[5], NC_000009.11:g.114499979CA[2], NC_000009.11:g.114499979CA[3], NC_000009.11:g.114499979CA[5]

Select item 14915484952.

rs1491548495 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:111748761 (GRCh38)
9:114511041 (GRCh37)
Canonical SPDI:: NC_000009.12:111748760:CT:
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0086/33 (ALSPAC)
-=0.0127/47 (TWINSUK)
HGVS:: NC_000009.12:g.111748761_111748762del, NC_000009.11:g.114511041_114511042del

Select item 14913734373.

rs1491373437 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:111778770 (GRCh38)
9:114541050 (GRCh37)
Canonical SPDI:: NC_000009.12:111778769:CA:
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000009.12:g.111778770_111778771del, NC_000009.11:g.114541050_114541051del

Select item 14913202744.

rs1491320274 has merged into rs10537471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:111686947 (GRCh38)
9:114449227 (GRCh37)
Canonical SPDI:: NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111686939:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.3472/1739 (1000Genomes)
HGVS:: NC_000009.12:g.111686947_111686955del, NC_000009.12:g.111686950_111686955del, NC_000009.12:g.111686951_111686955del, NC_000009.12:g.111686953_111686955del, NC_000009.12:g.111686954_111686955del, NC_000009.12:g.111686955del, NC_000009.12:g.111686955dup, NC_000009.12:g.111686954_111686955dup, NC_000009.12:g.111686953_111686955dup, NC_000009.12:g.111686952_111686955dup, NC_000009.12:g.111686951_111686955dup, NC_000009.12:g.111686949_111686955dup, NC_000009.12:g.111686948_111686955dup, NC_000009.12:g.111686947_111686955dup, NC_000009.12:g.111686946_111686955dup, NC_000009.12:g.111686945_111686955dup, NC_000009.12:g.111686944_111686955dup, NC_000009.12:g.111686943_111686955dup, NC_000009.12:g.111686942_111686955dup, NC_000009.12:g.111686941_111686955dup, NC_000009.12:g.111686940_111686955dup, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111686955_111686956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449227_114449235del, NC_000009.11:g.114449230_114449235del, NC_000009.11:g.114449231_114449235del, NC_000009.11:g.114449233_114449235del, NC_000009.11:g.114449234_114449235del, NC_000009.11:g.114449235del, NC_000009.11:g.114449235dup, NC_000009.11:g.114449234_114449235dup, NC_000009.11:g.114449233_114449235dup, NC_000009.11:g.114449232_114449235dup, NC_000009.11:g.114449231_114449235dup, NC_000009.11:g.114449229_114449235dup, NC_000009.11:g.114449228_114449235dup, NC_000009.11:g.114449227_114449235dup, NC_000009.11:g.114449226_114449235dup, NC_000009.11:g.114449225_114449235dup, NC_000009.11:g.114449224_114449235dup, NC_000009.11:g.114449223_114449235dup, NC_000009.11:g.114449222_114449235dup, NC_000009.11:g.114449221_114449235dup, NC_000009.11:g.114449220_114449235dup, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114449235_114449236insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017014341.2:c.*12099_*12107del, XM_017014341.2:c.*12102_*12107del, XM_017014341.2:c.*12103_*12107del, XM_017014341.2:c.*12105_*12107del, XM_017014341.2:c.*12106_*12107del, XM_017014341.2:c.*12107del, XM_017014341.2:c.*12107dup, XM_017014341.2:c.*12106_*12107dup, XM_017014341.2:c.*12105_*12107dup, XM_017014341.2:c.*12104_*12107dup, XM_017014341.2:c.*12103_*12107dup, XM_017014341.2:c.*12101_*12107dup, XM_017014341.2:c.*12100_*12107dup, XM_017014341.2:c.*12099_*12107dup, XM_017014341.2:c.*12098_*12107dup, XM_017014341.2:c.*12097_*12107dup, XM_017014341.2:c.*12096_*12107dup, XM_017014341.2:c.*12095_*12107dup, XM_017014341.2:c.*12094_*12107dup, XM_017014341.2:c.*12093_*12107dup, XM_017014341.2:c.*12092_*12107dup, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017014341.2:c.*12107_*12108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912084495.

rs1491208449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:111737699 (GRCh38)
9:114499980 (GRCh37)
Canonical SPDI:: NC_000009.12:111737699:A:AA
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.111737700dup, NC_000009.11:g.114499980dup

Select item 14911615006.

rs1491161500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:111694046 (GRCh38)
9:114456326 (GRCh37)
Canonical SPDI:: NC_000009.12:111694044:ATA:A
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.111694046_111694047del, NC_000009.11:g.114456326_114456327del, XM_017014341.2:c.*5001_*5002del

Select item 14911517127.

rs1491151712 has merged into rs11295075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:111778781 (GRCh38)
9:114541061 (GRCh37)
Canonical SPDI:: NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:111778770:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.111778781_111778791del, NC_000009.12:g.111778782_111778791del, NC_000009.12:g.111778784_111778791del, NC_000009.12:g.111778785_111778791del, NC_000009.12:g.111778786_111778791del, NC_000009.12:g.111778787_111778791del, NC_000009.12:g.111778788_111778791del, NC_000009.12:g.111778789_111778791del, NC_000009.12:g.111778790_111778791del, NC_000009.12:g.111778791del, NC_000009.12:g.111778791dup, NC_000009.12:g.111778790_111778791dup, NC_000009.12:g.111778789_111778791dup, NC_000009.12:g.111778788_111778791dup, NC_000009.12:g.111778787_111778791dup, NC_000009.12:g.111778786_111778791dup, NC_000009.11:g.114541061_114541071del, NC_000009.11:g.114541062_114541071del, NC_000009.11:g.114541064_114541071del, NC_000009.11:g.114541065_114541071del, NC_000009.11:g.114541066_114541071del, NC_000009.11:g.114541067_114541071del, NC_000009.11:g.114541068_114541071del, NC_000009.11:g.114541069_114541071del, NC_000009.11:g.114541070_114541071del, NC_000009.11:g.114541071del, NC_000009.11:g.114541071dup, NC_000009.11:g.114541070_114541071dup, NC_000009.11:g.114541069_114541071dup, NC_000009.11:g.114541068_114541071dup, NC_000009.11:g.114541067_114541071dup, NC_000009.11:g.114541066_114541071dup

Select item 14911421438.

rs1491142143 has merged into rs11338309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:111687762 (GRCh38)
9:114450042 (GRCh37)
Canonical SPDI:: NC_000009.12:111687755:TTTTTTTTTTT:TTTTTT,NC_000009.12:111687755:TTTTTTTTTTT:TTTTTTTT,NC_000009.12:111687755:TTTTTTTTTTT:TTTTTTTTT,NC_000009.12:111687755:TTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:111687755:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:111687755:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SHOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.18466/3095 (TOMMO)
T=0.25655/470 (Korea1K)
-=0.325/13 (GENOME_DK)
T=0.3778/1892 (1000Genomes)
-=0.44833/269 (NorthernSweden)
-=0.4494/1732 (ALSPAC)
-=0.44984/1668 (TWINSUK)
HGVS:: NC_000009.12:g.111687762_111687766del, NC_000009.12:g.111687764_111687766del, NC_000009.12:g.111687765_111687766del, NC_000009.12:g.111687766del, NC_000009.12:g.111687766dup, NC_000009.12:g.111687759_111687766dup, NC_000009.11:g.114450042_114450046del, NC_000009.11:g.114450044_114450046del, NC_000009.11:g.114450045_114450046del, NC_000009.11:g.114450046del, NC_000009.11:g.114450046dup, NC_000009.11:g.114450039_114450046dup, XM_017014341.2:c.*11287_*11291del, XM_017014341.2:c.*11289_*11291del, XM_017014341.2:c.*11290_*11291del, XM_017014341.2:c.*11291del, XM_017014341.2:c.*11291dup, XM_017014341.2:c.*11284_*11291dup

Select item 14911016819.

rs1491101681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 9:111687756 (GRCh38)
9:114450037 (GRCh37)
Canonical SPDI:: NC_000009.12:111687756:T:TCT
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.000071/1 (ALFA)
TC=0.000011/3 (TOPMED)
TC=0.000038/1 (GnomAD)
HGVS:: NC_000009.12:g.111687757_111687758insCT, NC_000009.11:g.114450037_114450038insCT, XM_017014341.2:c.*11290_*11291insGA

Select item 149108562510.

rs1491085625 has merged into rs34413616 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:111786515 (GRCh38)
9:114548795 (GRCh37)
Canonical SPDI:: NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:111786503:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.111786515_111786528del, NC_000009.12:g.111786517_111786528del, NC_000009.12:g.111786518_111786528del, NC_000009.12:g.111786520_111786528del, NC_000009.12:g.111786521_111786528del, NC_000009.12:g.111786522_111786528del, NC_000009.12:g.111786523_111786528del, NC_000009.12:g.111786524_111786528del, NC_000009.12:g.111786525_111786528del, NC_000009.12:g.111786526_111786528del, NC_000009.12:g.111786527_111786528del, NC_000009.12:g.111786528del, NC_000009.12:g.111786528dup, NC_000009.12:g.111786527_111786528dup, NC_000009.12:g.111786526_111786528dup, NC_000009.12:g.111786525_111786528dup, NC_000009.12:g.111786524_111786528dup, NC_000009.12:g.111786523_111786528dup, NC_000009.12:g.111786510_111786528dup, NC_000009.12:g.111786509_111786528dup, NC_000009.12:g.111786508_111786528dup, NC_000009.12:g.111786507_111786528dup, NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.111786528_111786529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114548795_114548808del, NC_000009.11:g.114548797_114548808del, NC_000009.11:g.114548798_114548808del, NC_000009.11:g.114548800_114548808del, NC_000009.11:g.114548801_114548808del, NC_000009.11:g.114548802_114548808del, NC_000009.11:g.114548803_114548808del, NC_000009.11:g.114548804_114548808del, NC_000009.11:g.114548805_114548808del, NC_000009.11:g.114548806_114548808del, NC_000009.11:g.114548807_114548808del, NC_000009.11:g.114548808del, NC_000009.11:g.114548808dup, NC_000009.11:g.114548807_114548808dup, NC_000009.11:g.114548806_114548808dup, NC_000009.11:g.114548805_114548808dup, NC_000009.11:g.114548804_114548808dup, NC_000009.11:g.114548803_114548808dup, NC_000009.11:g.114548790_114548808dup, NC_000009.11:g.114548789_114548808dup, NC_000009.11:g.114548788_114548808dup, NC_000009.11:g.114548787_114548808dup, NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.114548808_114548809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149108409711.

rs1491084097 has merged into rs201917801 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 9:111779130 (GRCh38)
9:114541410 (GRCh37)
Canonical SPDI:: NC_000009.12:111779114:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000009.12:111779114:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000009.12:111779114:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000009.12:111779114:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000009.12:111779114:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000009.12:g.111779116GA[7], NC_000009.12:g.111779116GA[8], NC_000009.12:g.111779116GA[9], NC_000009.12:g.111779116GA[11], NC_000009.12:g.111779116GA[12], NC_000009.11:g.114541396GA[7], NC_000009.11:g.114541396GA[8], NC_000009.11:g.114541396GA[9], NC_000009.11:g.114541396GA[11], NC_000009.11:g.114541396GA[12]

Select item 149100776912.

rs1491007769 has merged into rs35014939 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAATAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:111717609 (GRCh38)
9:114479889 (GRCh37)
Canonical SPDI:: NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:111717594:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA=0.00007/1 (ALFA)
HGVS:: NC_000009.12:g.111717609_111717611del, NC_000009.12:g.111717610_111717611del, NC_000009.12:g.111717611del, NC_000009.12:g.111717611dup, NC_000009.12:g.111717610_111717611dup, NC_000009.12:g.111717595_111717611A[20]TAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.114479889_114479891del, NC_000009.11:g.114479890_114479891del, NC_000009.11:g.114479891del, NC_000009.11:g.114479891dup, NC_000009.11:g.114479890_114479891dup, NC_000009.11:g.114479875_114479891A[20]TAAAAAAAAAAAAAAAAAAAA[1]

Select item 149096876213.

rs1490968762 [Homo sapiens]

Variant type:: DEL
Alleles:: ATG>- [Show Flanks]
Chromosome:: 9:111767828 (GRCh38)
9:114530108 (GRCh37)
Canonical SPDI:: NC_000009.12:111767827:ATG:
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.111767828_111767830del, NC_000009.11:g.114530108_114530110del

Select item 149086084614.

rs1490860846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:111696208 (GRCh38)
9:114458488 (GRCh37)
Canonical SPDI:: NC_000009.12:111696207:T:G
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111696208T>G, NC_000009.11:g.114458488T>G, XM_017014341.2:c.*2839A>C

Select item 149085076115.

rs1490850761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:111770608 (GRCh38)
9:114532888 (GRCh37)
Canonical SPDI:: NC_000009.12:111770607:G:A
Gene:: SHOC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.111770608G>A, NC_000009.11:g.114532888G>A

Select item 149083578816.

rs1490835788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:111752668 (GRCh38)
9:114514948 (GRCh37)
Canonical SPDI:: NC_000009.12:111752667:A:G
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111752668A>G, NC_000009.11:g.114514948A>G

Select item 149081200317.

rs1490812003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:111751455 (GRCh38)
9:114513735 (GRCh37)
Canonical SPDI:: NC_000009.12:111751454:T:C
Gene:: SHOC1 (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_000009.12:g.111751455T>C, NC_000009.11:g.114513735T>C

Select item 149075934218.

rs1490759342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:111705258 (GRCh38)
9:114467538 (GRCh37)
Canonical SPDI:: NC_000009.12:111705257:C:T
Gene:: SHOC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111705258C>T, NC_000009.11:g.114467538C>T, NM_173521.5:c.2652G>A, NM_173521.4:c.2652G>A, NM_173521.3:c.2652G>A, XM_011518302.3:c.2652G>A, XM_011518302.2:c.2652G>A, XM_011518302.1:c.2652G>A, XM_006716975.3:c.2739G>A, XM_006716975.2:c.2739G>A, XM_006716975.1:c.2739G>A, NM_001080551.3:c.2535G>A, NM_001080551.2:c.2535G>A, NM_001080551.1:c.2535G>A, XM_017014341.2:c.2844G>A, XM_017014341.1:c.2844G>A, NR_109816.2:n.2918G>A, NR_109816.1:n.2989G>A, XM_011518303.2:c.2652G>A, XM_011518303.1:c.2652G>A, XM_017014340.2:c.2505G>A, XM_017014340.1:c.2505G>A, XM_011518306.2:c.2277G>A, XM_011518306.1:c.2277G>A, XM_011518309.2:c.2844G>A, XM_011518309.1:c.2844G>A, NM_001378211.1:c.2844G>A, NM_001378212.1:c.2430G>A, XM_047422865.1:c.2193G>A, XM_047422866.1:c.2844G>A, XM_047422867.1:c.2844G>A, XM_047422868.1:c.2739G>A

Select item 149073592319.

rs1490735923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:111732658 (GRCh38)
9:114494938 (GRCh37)
Canonical SPDI:: NC_000009.12:111732657:C:A
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000009.12:g.111732658C>A, NC_000009.11:g.114494938C>A

Select item 149072515920.

rs1490725159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:111726116 (GRCh38)
9:114488396 (GRCh37)
Canonical SPDI:: NC_000009.12:111726115:C:T
Gene:: SHOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.111726116C>T, NC_000009.11:g.114488396C>T

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