SNP Links for Gene (Select 51669) - SNP

Links from Gene

Items: 1 to 20 of 5503

<< First< Prev

Page of 276

Next >Last >>

Select item 14915813721.

rs1491581372 has merged into rs11314015 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:30081742 (GRCh38)
8:29939258 (GRCh37)
Canonical SPDI:: NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:30081731:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0542/209 (ALSPAC)
T=0.4774/2391 (1000Genomes)
HGVS:: NC_000008.11:g.30081742_30081746del, NC_000008.11:g.30081743_30081746del, NC_000008.11:g.30081744_30081746del, NC_000008.11:g.30081745_30081746del, NC_000008.11:g.30081746del, NC_000008.11:g.30081746dup, NC_000008.11:g.30081738_30081746dup, NC_000008.10:g.29939258_29939262del, NC_000008.10:g.29939259_29939262del, NC_000008.10:g.29939260_29939262del, NC_000008.10:g.29939261_29939262del, NC_000008.10:g.29939262del, NC_000008.10:g.29939262dup, NC_000008.10:g.29939254_29939262dup

Select item 14915256342.

rs1491525634 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30075982 (GRCh38)
8:29933498 (GRCh37)
Canonical SPDI:: NC_000008.11:30075981:AAAAAAAAA:AAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.30075990del, NC_000008.11:g.30075990dup, NC_000008.11:g.30075989_30075990dup, NC_000008.11:g.30075988_30075990dup, NC_000008.11:g.30075987_30075990dup, NC_000008.11:g.30075986_30075990dup, NC_000008.11:g.30075985_30075990dup, NC_000008.11:g.30075984_30075990dup, NC_000008.11:g.30075983_30075990dup, NC_000008.11:g.30075990_30075991insAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506del, NC_000008.10:g.29933506dup, NC_000008.10:g.29933505_29933506dup, NC_000008.10:g.29933504_29933506dup, NC_000008.10:g.29933503_29933506dup, NC_000008.10:g.29933502_29933506dup, NC_000008.10:g.29933501_29933506dup, NC_000008.10:g.29933500_29933506dup, NC_000008.10:g.29933499_29933506dup, NC_000008.10:g.29933506_29933507insAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915100563.

rs1491510056 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT,T,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:30069133 (GRCh38)
8:29926650 (GRCh37)
Canonical SPDI:: NC_000008.11:30069133::CT,NC_000008.11:30069133::T,NC_000008.11:30069133::TT,NC_000008.11:30069133::TTT,NC_000008.11:30069133::TTTT,NC_000008.11:30069133::TTTTTTTT,NC_000008.11:30069133::TTTTTTTTT,NC_000008.11:30069133::TTTTTTTTTTTTTTTTTTT
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.00031/5 (ALFA)
T=0.00021/4 (TOMMO)
HGVS:: NC_000008.11:g.30069133_30069134insCT, NC_000008.11:g.30069133_30069134insT, NC_000008.11:g.30069133_30069134insTT, NC_000008.11:g.30069133_30069134insTTT, NC_000008.11:g.30069133_30069134insTTTT, NC_000008.11:g.30069133_30069134insTTTTTTTT, NC_000008.11:g.30069133_30069134insTTTTTTTTT, NC_000008.11:g.30069133_30069134insTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.29926649_29926650insCT, NC_000008.10:g.29926649_29926650insT, NC_000008.10:g.29926649_29926650insTT, NC_000008.10:g.29926649_29926650insTTT, NC_000008.10:g.29926649_29926650insTTTT, NC_000008.10:g.29926649_29926650insTTTTTTTT, NC_000008.10:g.29926649_29926650insTTTTTTTTT, NC_000008.10:g.29926649_29926650insTTTTTTTTTTTTTTTTTTT

Select item 14913322514.

rs1491332251 has merged into rs60893961 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30079167 (GRCh38)
8:29936683 (GRCh37)
Canonical SPDI:: NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30079158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000166/44 (TOPMED)
HGVS:: NC_000008.11:g.30079167_30079179del, NC_000008.11:g.30079168_30079179del, NC_000008.11:g.30079170_30079179del, NC_000008.11:g.30079171_30079179del, NC_000008.11:g.30079172_30079179del, NC_000008.11:g.30079173_30079179del, NC_000008.11:g.30079175_30079179del, NC_000008.11:g.30079177_30079179del, NC_000008.11:g.30079178_30079179del, NC_000008.11:g.30079179del, NC_000008.11:g.30079179dup, NC_000008.11:g.30079178_30079179dup, NC_000008.11:g.30079177_30079179dup, NC_000008.11:g.30079176_30079179dup, NC_000008.11:g.30079175_30079179dup, NC_000008.11:g.30079174_30079179dup, NC_000008.11:g.30079179_30079180insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30079179_30079180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30079179_30079180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.30079179_30079180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29936683_29936695del, NC_000008.10:g.29936684_29936695del, NC_000008.10:g.29936686_29936695del, NC_000008.10:g.29936687_29936695del, NC_000008.10:g.29936688_29936695del, NC_000008.10:g.29936689_29936695del, NC_000008.10:g.29936691_29936695del, NC_000008.10:g.29936693_29936695del, NC_000008.10:g.29936694_29936695del, NC_000008.10:g.29936695del, NC_000008.10:g.29936695dup, NC_000008.10:g.29936694_29936695dup, NC_000008.10:g.29936693_29936695dup, NC_000008.10:g.29936692_29936695dup, NC_000008.10:g.29936691_29936695dup, NC_000008.10:g.29936690_29936695dup, NC_000008.10:g.29936695_29936696insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29936695_29936696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29936695_29936696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.29936695_29936696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913087615.

rs1491308761 has merged into rs71204258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30078150 (GRCh38)
8:29935666 (GRCh37)
Canonical SPDI:: NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:30078139:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.30078150_30078153del, NC_000008.11:g.30078152_30078153del, NC_000008.11:g.30078153del, NC_000008.11:g.30078153dup, NC_000008.11:g.30078152_30078153dup, NC_000008.11:g.30078151_30078153dup, NC_000008.11:g.30078150_30078153dup, NC_000008.11:g.30078149_30078153dup, NC_000008.11:g.30078144_30078153dup, NC_000008.10:g.29935666_29935669del, NC_000008.10:g.29935668_29935669del, NC_000008.10:g.29935669del, NC_000008.10:g.29935669dup, NC_000008.10:g.29935668_29935669dup, NC_000008.10:g.29935667_29935669dup, NC_000008.10:g.29935666_29935669dup, NC_000008.10:g.29935665_29935669dup, NC_000008.10:g.29935660_29935669dup

Select item 14912080886.

rs1491208088 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911997237.

rs1491199723 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:30075981 (GRCh38)
8:29933497 (GRCh37)
Canonical SPDI:: NC_000008.11:30075980:TA:
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.30075981_30075982del, NC_000008.10:g.29933497_29933498del

Select item 14911785298.

rs1491178529 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:30064898 (GRCh38)
8:29922414 (GRCh37)
Canonical SPDI:: NC_000008.11:30064897:CT:
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.30064898_30064899del, NC_000008.10:g.29922414_29922415del

Select item 14911782639.

rs1491178263 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30079158 (GRCh38)
8:29936674 (GRCh37)
Canonical SPDI:: NC_000008.11:30079157:CA:
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.30079158_30079159del, NC_000008.10:g.29936674_29936675del

Select item 149111260310.

rs1491112603 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30069133 (GRCh38)
8:29926649 (GRCh37)
Canonical SPDI:: NC_000008.11:30069132:CA:
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.30069133_30069134del, NC_000008.10:g.29926649_29926650del

Select item 149103205011.

rs1491032050 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30075991 (GRCh38)
8:29933507 (GRCh37)
Canonical SPDI:: NC_000008.11:30075989:ACA:A
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.021666/257 (ALFA)
-=0.000089/9 (GnomAD)
HGVS:: NC_000008.11:g.30075991_30075992del, NC_000008.10:g.29933507_29933508del

Select item 149100918612.

rs1491009186 has merged into rs55898226 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:30082348 (GRCh38)
8:29939864 (GRCh37)
Canonical SPDI:: NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30082337:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.025/1 (GENOME_DK)
A=0.09093/1521 (TOMMO)
HGVS:: NC_000008.11:g.30082348_30082351del, NC_000008.11:g.30082349_30082351del, NC_000008.11:g.30082350_30082351del, NC_000008.11:g.30082351del, NC_000008.11:g.30082351dup, NC_000008.11:g.30082350_30082351dup, NC_000008.10:g.29939864_29939867del, NC_000008.10:g.29939865_29939867del, NC_000008.10:g.29939866_29939867del, NC_000008.10:g.29939867del, NC_000008.10:g.29939867dup, NC_000008.10:g.29939866_29939867dup

Select item 149100045713.

rs1491000457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:30077144 (GRCh38)
8:29934660 (GRCh37)
Canonical SPDI:: NC_000008.11:30077143:C:G
Gene:: SARAF (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)
HGVS:: NC_000008.11:g.30077144C>G, NC_000008.10:g.29934660C>G

Select item 149094636914.

rs1490946369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:30062629 (GRCh38)
8:29920145 (GRCh37)
Canonical SPDI:: NC_000008.11:30062628:A:T
Gene:: SARAF (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000008.11:g.30062629A>T, NC_000008.10:g.29920145A>T

Select item 149070775315.

rs1490707753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:30083916 (GRCh38)
8:29941432 (GRCh37)
Canonical SPDI:: NC_000008.11:30083915:A:T
Gene:: SARAF (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.30083916A>T, NC_000008.10:g.29941432A>T

Select item 149066084516.

rs1490660845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30071213 (GRCh38)
8:29928729 (GRCh37)
Canonical SPDI:: NC_000008.11:30071212:C:T
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.30071213C>T, NC_000008.10:g.29928729C>T

Select item 149048567217.

rs1490485672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:30064296 (GRCh38)
8:29921812 (GRCh37)
Canonical SPDI:: NC_000008.11:30064295:G:T
Gene:: SARAF (Varview)
Functional Consequence:: 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_000008.11:g.30064296G>T, NC_000008.10:g.29921812G>T

Select item 149039711518.

rs1490397115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:30078182 (GRCh38)
8:29935698 (GRCh37)
Canonical SPDI:: NC_000008.11:30078181:A:G
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00017/2 (GnomAD)
HGVS:: NC_000008.11:g.30078182A>G, NC_000008.10:g.29935698A>G

Select item 149038335519.

rs1490383355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:30082980 (GRCh38)
8:29940496 (GRCh37)
Canonical SPDI:: NC_000008.11:30082979:A:G
Gene:: SARAF (Varview)
Functional Consequence:: 5_prime_UTR_variant
HGVS:: NC_000008.11:g.30082980A>G, NC_000008.10:g.29940496A>G, NM_016127.6:c.-31T>C, NM_016127.5:c.-31T>C, NM_016127.4:c.-31T>C, NM_001284239.1:c.-368T>C

Select item 149018323420.

rs1490183234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:30070300 (GRCh38)
8:29927816 (GRCh37)
Canonical SPDI:: NC_000008.11:30070299:A:C,NC_000008.11:30070299:A:G
Gene:: SARAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.30070300A>C, NC_000008.11:g.30070300A>G, NC_000008.10:g.29927816A>C, NC_000008.10:g.29927816A>G

<< First< Prev

Page of 276

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5503

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity