SNP Links for Gene (Select 6469) - SNP

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Select item 14914363841.

rs1491436384 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:155813642 (GRCh38)
7:155606336 (GRCh37)
Canonical SPDI:: NC_000007.14:155813641:TA:
Gene:: SHH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00002/2 (GnomAD)
HGVS:: NC_000007.14:g.155813642_155813643del, NC_000007.13:g.155606336_155606337del, NG_007504.2:g.3631_3632del

Select item 14914347602.

rs1491434760 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:155802076 (GRCh38)
7:155594770 (GRCh37)
Canonical SPDI:: NC_000007.14:155802075:CA:
Gene:: SHH (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.155802076_155802077del, NC_000007.13:g.155594770_155594771del, NG_007504.2:g.15197_15198del, NM_000193.4:c.*823_*824del, XM_011516480.3:c.*823_*824del, XM_011516479.3:c.*823_*824del, XM_047420718.1:c.*823_*824del

Select item 14912627493.

rs1491262749 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:155813074 (GRCh38)
7:155605768 (GRCh37)
Canonical SPDI:: NC_000007.14:155813073:AT:
Gene:: SHH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.00004/0 (TOMMO)
HGVS:: NC_000007.14:g.155813074_155813075del, NC_000007.13:g.155605768_155605769del, NG_007504.2:g.4199_4200del

Select item 14911808854.

rs1491180885 has merged into rs5888637 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:155813084 (GRCh38)
7:155605778 (GRCh37)
Canonical SPDI:: NC_000007.14:155813074:TTTTTTTTTTT:TTTTTTTTT,NC_000007.14:155813074:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:155813074:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:155813074:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHH (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.03/55 (Korea1K)
T=0.0524/11 (Vietnamese)
T=0.0934/360 (ALSPAC)
T=0.1034/518 (1000Genomes)
T=0.105/63 (NorthernSweden)
T=0.1068/396 (TWINSUK)
T=0.1102/110 (GoNL)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000007.14:g.155813084_155813085del, NC_000007.14:g.155813085del, NC_000007.14:g.155813085dup, NC_000007.14:g.155813085_155813086insTTTTTTTTTTTT, NC_000007.13:g.155605778_155605779del, NC_000007.13:g.155605779del, NC_000007.13:g.155605779dup, NC_000007.13:g.155605779_155605780insTTTTTTTTTTTT, NG_007504.2:g.4198_4199del, NG_007504.2:g.4199del, NG_007504.2:g.4199dup, NG_007504.2:g.4199_4200insAAAAAAAAAAAA

Select item 14911449865.

rs1491144986 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:155813251 (GRCh38)
7:155605945 (GRCh37)
Canonical SPDI:: NC_000007.14:155813250:TG:
Gene:: SHH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.155813251_155813252del, NC_000007.13:g.155605945_155605946del, NG_007504.2:g.4022_4023del

Select item 14911357386.

rs1491135738 has merged into rs10596345 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:155802085 (GRCh38)
7:155594779 (GRCh37)
Canonical SPDI:: NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:155802076:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SHH (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.155802085_155802100del, NC_000007.14:g.155802087_155802100del, NC_000007.14:g.155802088_155802100del, NC_000007.14:g.155802089_155802100del, NC_000007.14:g.155802090_155802100del, NC_000007.14:g.155802091_155802100del, NC_000007.14:g.155802092_155802100del, NC_000007.14:g.155802093_155802100del, NC_000007.14:g.155802094_155802100del, NC_000007.14:g.155802095_155802100del, NC_000007.14:g.155802096_155802100del, NC_000007.14:g.155802097_155802100del, NC_000007.14:g.155802098_155802100del, NC_000007.14:g.155802099_155802100del, NC_000007.14:g.155802100del, NC_000007.14:g.155802100dup, NC_000007.14:g.155802099_155802100dup, NC_000007.14:g.155802098_155802100dup, NC_000007.14:g.155802097_155802100dup, NC_000007.14:g.155802096_155802100dup, NC_000007.14:g.155802095_155802100dup, NC_000007.14:g.155802094_155802100dup, NC_000007.14:g.155802093_155802100dup, NC_000007.14:g.155802092_155802100dup, NC_000007.14:g.155802091_155802100dup, NC_000007.14:g.155802090_155802100dup, NC_000007.14:g.155802089_155802100dup, NC_000007.14:g.155802088_155802100dup, NC_000007.14:g.155802087_155802100dup, NC_000007.14:g.155802086_155802100dup, NC_000007.14:g.155802085_155802100dup, NC_000007.14:g.155802084_155802100dup, NC_000007.14:g.155802083_155802100dup, NC_000007.14:g.155802082_155802100dup, NC_000007.14:g.155802081_155802100dup, NC_000007.14:g.155802080_155802100dup, NC_000007.14:g.155802079_155802100dup, NC_000007.14:g.155802078_155802100dup, NC_000007.14:g.155802077_155802100dup, NC_000007.14:g.155802100_155802101insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.155802100_155802101insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.155802100_155802101insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.155802100_155802101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.155802077_155802100A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.155594779_155594794del, NC_000007.13:g.155594781_155594794del, NC_000007.13:g.155594782_155594794del, NC_000007.13:g.155594783_155594794del, NC_000007.13:g.155594784_155594794del, NC_000007.13:g.155594785_155594794del, NC_000007.13:g.155594786_155594794del, NC_000007.13:g.155594787_155594794del, NC_000007.13:g.155594788_155594794del, NC_000007.13:g.155594789_155594794del, NC_000007.13:g.155594790_155594794del, NC_000007.13:g.155594791_155594794del, NC_000007.13:g.155594792_155594794del, NC_000007.13:g.155594793_155594794del, NC_000007.13:g.155594794del, NC_000007.13:g.155594794dup, NC_000007.13:g.155594793_155594794dup, NC_000007.13:g.155594792_155594794dup, NC_000007.13:g.155594791_155594794dup, NC_000007.13:g.155594790_155594794dup, NC_000007.13:g.155594789_155594794dup, NC_000007.13:g.155594788_155594794dup, NC_000007.13:g.155594787_155594794dup, NC_000007.13:g.155594786_155594794dup, NC_000007.13:g.155594785_155594794dup, NC_000007.13:g.155594784_155594794dup, NC_000007.13:g.155594783_155594794dup, NC_000007.13:g.155594782_155594794dup, NC_000007.13:g.155594781_155594794dup, NC_000007.13:g.155594780_155594794dup, NC_000007.13:g.155594779_155594794dup, NC_000007.13:g.155594778_155594794dup, NC_000007.13:g.155594777_155594794dup, NC_000007.13:g.155594776_155594794dup, NC_000007.13:g.155594775_155594794dup, NC_000007.13:g.155594774_155594794dup, NC_000007.13:g.155594773_155594794dup, NC_000007.13:g.155594772_155594794dup, NC_000007.13:g.155594771_155594794dup, NC_000007.13:g.155594794_155594795insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.155594794_155594795insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.155594794_155594795insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.155594794_155594795insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.155594771_155594794A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_007504.2:g.15182_15197del, NG_007504.2:g.15184_15197del, NG_007504.2:g.15185_15197del, NG_007504.2:g.15186_15197del, NG_007504.2:g.15187_15197del, NG_007504.2:g.15188_15197del, NG_007504.2:g.15189_15197del, NG_007504.2:g.15190_15197del, NG_007504.2:g.15191_15197del, NG_007504.2:g.15192_15197del, NG_007504.2:g.15193_15197del, NG_007504.2:g.15194_15197del, NG_007504.2:g.15195_15197del, NG_007504.2:g.15196_15197del, NG_007504.2:g.15197del, NG_007504.2:g.15197dup, NG_007504.2:g.15196_15197dup, NG_007504.2:g.15195_15197dup, NG_007504.2:g.15194_15197dup, NG_007504.2:g.15193_15197dup, NG_007504.2:g.15192_15197dup, NG_007504.2:g.15191_15197dup, NG_007504.2:g.15190_15197dup, NG_007504.2:g.15189_15197dup, NG_007504.2:g.15188_15197dup, NG_007504.2:g.15187_15197dup, NG_007504.2:g.15186_15197dup, NG_007504.2:g.15185_15197dup, NG_007504.2:g.15184_15197dup, NG_007504.2:g.15183_15197dup, NG_007504.2:g.15182_15197dup, NG_007504.2:g.15181_15197dup, NG_007504.2:g.15180_15197dup, NG_007504.2:g.15179_15197dup, NG_007504.2:g.15178_15197dup, NG_007504.2:g.15177_15197dup, NG_007504.2:g.15176_15197dup, NG_007504.2:g.15175_15197dup, NG_007504.2:g.15174_15197dup, NG_007504.2:g.15197_15198insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007504.2:g.15197_15198insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007504.2:g.15197_15198insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007504.2:g.15197_15198insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007504.2:g.15174_15197T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_000193.4:c.*808_*823del, NM_000193.4:c.*810_*823del, NM_000193.4:c.*811_*823del, NM_000193.4:c.*812_*823del, NM_000193.4:c.*813_*823del, NM_000193.4:c.*814_*823del, NM_000193.4:c.*815_*823del, NM_000193.4:c.*816_*823del, NM_000193.4:c.*817_*823del, NM_000193.4:c.*818_*823del, NM_000193.4:c.*819_*823del, NM_000193.4:c.*820_*823del, NM_000193.4:c.*821_*823del, NM_000193.4:c.*822_*823del, NM_000193.4:c.*823del, NM_000193.4:c.*823dup, NM_000193.4:c.*822_*823dup, NM_000193.4:c.*821_*823dup, NM_000193.4:c.*820_*823dup, NM_000193.4:c.*819_*823dup, NM_000193.4:c.*818_*823dup, NM_000193.4:c.*817_*823dup, NM_000193.4:c.*816_*823dup, NM_000193.4:c.*815_*823dup, NM_000193.4:c.*814_*823dup, NM_000193.4:c.*813_*823dup, NM_000193.4:c.*812_*823dup, NM_000193.4:c.*811_*823dup, NM_000193.4:c.*810_*823dup, NM_000193.4:c.*809_*823dup, NM_000193.4:c.*808_*823dup, NM_000193.4:c.*807_*823dup, NM_000193.4:c.*806_*823dup, NM_000193.4:c.*805_*823dup, NM_000193.4:c.*804_*823dup, NM_000193.4:c.*803_*823dup, NM_000193.4:c.*802_*823dup, NM_000193.4:c.*801_*823dup, NM_000193.4:c.*800_*823dup, NM_000193.4:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_000193.4:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_000193.4:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_000193.4:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_000193.4:c.*800_*823T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_011516480.3:c.*808_*823del, XM_011516480.3:c.*810_*823del, XM_011516480.3:c.*811_*823del, XM_011516480.3:c.*812_*823del, XM_011516480.3:c.*813_*823del, XM_011516480.3:c.*814_*823del, XM_011516480.3:c.*815_*823del, XM_011516480.3:c.*816_*823del, XM_011516480.3:c.*817_*823del, XM_011516480.3:c.*818_*823del, XM_011516480.3:c.*819_*823del, XM_011516480.3:c.*820_*823del, XM_011516480.3:c.*821_*823del, XM_011516480.3:c.*822_*823del, XM_011516480.3:c.*823del, XM_011516480.3:c.*823dup, XM_011516480.3:c.*822_*823dup, XM_011516480.3:c.*821_*823dup, XM_011516480.3:c.*820_*823dup, XM_011516480.3:c.*819_*823dup, XM_011516480.3:c.*818_*823dup, XM_011516480.3:c.*817_*823dup, XM_011516480.3:c.*816_*823dup, XM_011516480.3:c.*815_*823dup, XM_011516480.3:c.*814_*823dup, XM_011516480.3:c.*813_*823dup, XM_011516480.3:c.*812_*823dup, XM_011516480.3:c.*811_*823dup, XM_011516480.3:c.*810_*823dup, XM_011516480.3:c.*809_*823dup, XM_011516480.3:c.*808_*823dup, XM_011516480.3:c.*807_*823dup, XM_011516480.3:c.*806_*823dup, XM_011516480.3:c.*805_*823dup, XM_011516480.3:c.*804_*823dup, XM_011516480.3:c.*803_*823dup, XM_011516480.3:c.*802_*823dup, XM_011516480.3:c.*801_*823dup, XM_011516480.3:c.*800_*823dup, XM_011516480.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516480.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516480.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516480.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516480.3:c.*800_*823T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_011516479.3:c.*808_*823del, XM_011516479.3:c.*810_*823del, XM_011516479.3:c.*811_*823del, XM_011516479.3:c.*812_*823del, XM_011516479.3:c.*813_*823del, XM_011516479.3:c.*814_*823del, XM_011516479.3:c.*815_*823del, XM_011516479.3:c.*816_*823del, XM_011516479.3:c.*817_*823del, XM_011516479.3:c.*818_*823del, XM_011516479.3:c.*819_*823del, XM_011516479.3:c.*820_*823del, XM_011516479.3:c.*821_*823del, XM_011516479.3:c.*822_*823del, XM_011516479.3:c.*823del, XM_011516479.3:c.*823dup, XM_011516479.3:c.*822_*823dup, XM_011516479.3:c.*821_*823dup, XM_011516479.3:c.*820_*823dup, XM_011516479.3:c.*819_*823dup, XM_011516479.3:c.*818_*823dup, XM_011516479.3:c.*817_*823dup, XM_011516479.3:c.*816_*823dup, XM_011516479.3:c.*815_*823dup, XM_011516479.3:c.*814_*823dup, XM_011516479.3:c.*813_*823dup, XM_011516479.3:c.*812_*823dup, XM_011516479.3:c.*811_*823dup, XM_011516479.3:c.*810_*823dup, XM_011516479.3:c.*809_*823dup, XM_011516479.3:c.*808_*823dup, XM_011516479.3:c.*807_*823dup, XM_011516479.3:c.*806_*823dup, XM_011516479.3:c.*805_*823dup, XM_011516479.3:c.*804_*823dup, XM_011516479.3:c.*803_*823dup, XM_011516479.3:c.*802_*823dup, XM_011516479.3:c.*801_*823dup, XM_011516479.3:c.*800_*823dup, XM_011516479.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516479.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516479.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516479.3:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011516479.3:c.*800_*823T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047420718.1:c.*808_*823del, XM_047420718.1:c.*810_*823del, XM_047420718.1:c.*811_*823del, XM_047420718.1:c.*812_*823del, XM_047420718.1:c.*813_*823del, XM_047420718.1:c.*814_*823del, XM_047420718.1:c.*815_*823del, XM_047420718.1:c.*816_*823del, XM_047420718.1:c.*817_*823del, XM_047420718.1:c.*818_*823del, XM_047420718.1:c.*819_*823del, XM_047420718.1:c.*820_*823del, XM_047420718.1:c.*821_*823del, XM_047420718.1:c.*822_*823del, XM_047420718.1:c.*823del, XM_047420718.1:c.*823dup, XM_047420718.1:c.*822_*823dup, XM_047420718.1:c.*821_*823dup, XM_047420718.1:c.*820_*823dup, XM_047420718.1:c.*819_*823dup, XM_047420718.1:c.*818_*823dup, XM_047420718.1:c.*817_*823dup, XM_047420718.1:c.*816_*823dup, XM_047420718.1:c.*815_*823dup, XM_047420718.1:c.*814_*823dup, XM_047420718.1:c.*813_*823dup, XM_047420718.1:c.*812_*823dup, XM_047420718.1:c.*811_*823dup, XM_047420718.1:c.*810_*823dup, XM_047420718.1:c.*809_*823dup, XM_047420718.1:c.*808_*823dup, XM_047420718.1:c.*807_*823dup, XM_047420718.1:c.*806_*823dup, XM_047420718.1:c.*805_*823dup, XM_047420718.1:c.*804_*823dup, XM_047420718.1:c.*803_*823dup, XM_047420718.1:c.*802_*823dup, XM_047420718.1:c.*801_*823dup, XM_047420718.1:c.*800_*823dup, XM_047420718.1:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047420718.1:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047420718.1:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047420718.1:c.*823_*824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047420718.1:c.*800_*823T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909739507.

rs1490973950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:155803087 (GRCh38)
7:155595781 (GRCh37)
Canonical SPDI:: NC_000007.14:155803086:C:T
Gene:: SHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.155803087C>T, NC_000007.13:g.155595781C>T, NG_007504.2:g.14187G>A, NM_000193.4:c.1202G>A, NM_000193.3:c.1202G>A, NM_000193.2:c.1202G>A, XM_011516480.3:c.941G>A, XM_011516480.2:c.941G>A, XM_011516480.1:c.941G>A, XM_011516479.3:c.941G>A, XM_011516479.2:c.941G>A, XM_011516479.1:c.941G>A, XM_047420718.1:c.863G>A, NP_000184.1:p.Ser401Asn, XP_011514782.1:p.Ser314Asn, XP_011514781.1:p.Ser314Asn, XP_047276674.1:p.Ser288Asn

Select item 14908782318.

rs1490878231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:155803677 (GRCh38)
7:155596371 (GRCh37)
Canonical SPDI:: NC_000007.14:155803676:C:A,NC_000007.14:155803676:C:T
Gene:: SHH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.155803677C>A, NC_000007.14:g.155803677C>T, NC_000007.13:g.155596371C>A, NC_000007.13:g.155596371C>T, NG_007504.2:g.13597G>T, NG_007504.2:g.13597G>A, NM_000193.4:c.612G>T, NM_000193.4:c.612G>A, NM_000193.3:c.612G>T, NM_000193.3:c.612G>A, NM_000193.2:c.612G>T, NM_000193.2:c.612G>A, XM_011516480.3:c.351G>T, XM_011516480.3:c.351G>A, XM_011516480.2:c.351G>T, XM_011516480.2:c.351G>A, XM_011516480.1:c.351G>T, XM_011516480.1:c.351G>A, XM_011516479.3:c.351G>T, XM_011516479.3:c.351G>A, XM_011516479.2:c.351G>T, XM_011516479.2:c.351G>A, XM_011516479.1:c.351G>T, XM_011516479.1:c.351G>A, XM_047420718.1:c.273G>T, XM_047420718.1:c.273G>A

Select item 14903331999.

rs1490333199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:155809475 (GRCh38)
7:155602169 (GRCh37)
Canonical SPDI:: NC_000007.14:155809474:C:A,NC_000007.14:155809474:C:T
Gene:: SHH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.155809475C>A, NC_000007.14:g.155809475C>T, NC_000007.13:g.155602169C>A, NC_000007.13:g.155602169C>T, NG_007504.2:g.7799G>T, NG_007504.2:g.7799G>A

Select item 149023472810.

rs1490234728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:155808529 (GRCh38)
7:155601223 (GRCh37)
Canonical SPDI:: NC_000007.14:155808528:C:A,NC_000007.14:155808528:C:G
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.155808529C>A, NC_000007.14:g.155808529C>G, NC_000007.13:g.155601223C>A, NC_000007.13:g.155601223C>G, NG_007504.2:g.8745G>T, NG_007504.2:g.8745G>C

Select item 149000289711.

rs1490002897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:155802456 (GRCh38)
7:155595150 (GRCh37)
Canonical SPDI:: NC_000007.14:155802455:C:T
Gene:: SHH (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.155802456C>T, NC_000007.13:g.155595150C>T, NG_007504.2:g.14818G>A, NM_000193.4:c.*444G>A, NM_000193.3:c.*444G>A, XM_011516480.3:c.*444G>A, XM_011516479.3:c.*444G>A, XM_047420718.1:c.*444G>A

Select item 148978768412.

rs1489787684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:155804128 (GRCh38)
7:155596822 (GRCh37)
Canonical SPDI:: NC_000007.14:155804127:C:G
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.001116/2 (Korea1K)
HGVS:: NC_000007.14:g.155804128C>G, NC_000007.13:g.155596822C>G, NG_007504.2:g.13146G>C

Select item 148948405713.

rs1489484057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:155813992 (GRCh38)
7:155606686 (GRCh37)
Canonical SPDI:: NC_000007.14:155813991:T:C
Gene:: SHH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000007.14:g.155813992T>C, NC_000007.13:g.155606686T>C, NG_007504.2:g.3282A>G

Select item 148948329514.

rs1489483295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:155812647 (GRCh38)
7:155605341 (GRCh37)
Canonical SPDI:: NC_000007.14:155812646:A:G
Gene:: SHH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.155812647A>G, NC_000007.13:g.155605341A>G, NG_007504.2:g.4627T>C

Select item 148912428015.

rs1489124280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:155807045 (GRCh38)
7:155599739 (GRCh37)
Canonical SPDI:: NC_000007.14:155807044:G:C
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.155807045G>C, NC_000007.13:g.155599739G>C, NG_007504.2:g.10229C>G

Select item 148903933016.

rs1489039330 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:155808092 (GRCh38)
7:155600786 (GRCh37)
Canonical SPDI:: NC_000007.14:155808091:GGGGG:GGGG
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.155808096del, NC_000007.13:g.155600790del, NG_007504.2:g.9182del

Select item 148898283917.

rs1488982839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:155808846 (GRCh38)
7:155601540 (GRCh37)
Canonical SPDI:: NC_000007.14:155808845:C:G
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.155808846C>G, NC_000007.13:g.155601540C>G, NG_007504.2:g.8428G>C

Select item 148891867118.

rs1488918671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:155804496 (GRCh38)
7:155597190 (GRCh37)
Canonical SPDI:: NC_000007.14:155804495:G:C,NC_000007.14:155804495:G:T
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.155804496G>C, NC_000007.14:g.155804496G>T, NC_000007.13:g.155597190G>C, NC_000007.13:g.155597190G>T, NG_007504.2:g.12778C>G, NG_007504.2:g.12778C>A

Select item 148871548819.

rs1488715488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:155807644 (GRCh38)
7:155600338 (GRCh37)
Canonical SPDI:: NC_000007.14:155807643:G:A,NC_000007.14:155807643:G:T
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.155807644G>A, NC_000007.14:g.155807644G>T, NC_000007.13:g.155600338G>A, NC_000007.13:g.155600338G>T, NG_007504.2:g.9630C>T, NG_007504.2:g.9630C>A

Select item 148861937720.

rs1488619377 [Homo sapiens]

Variant type:: DEL
Alleles:: TGCAGTGGGG>- [Show Flanks]
Chromosome:: 7:155806029 (GRCh38)
7:155598723 (GRCh37)
Canonical SPDI:: NC_000007.14:155806028:TGCAGTGGGG:
Gene:: SHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.155806029_155806038del, NC_000007.13:g.155598723_155598732del, NG_007504.2:g.11236_11245del

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