SNP Links for Gene (Select 3145) - SNP

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Select item 14913729001.

rs1491372900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119087239 (GRCh38)
11:118957950 (GRCh37)
Canonical SPDI:: NC_000011.10:119087239:G:GG
Gene:: HMBS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.119087240dup, NC_000011.9:g.118957950dup, NG_008093.1:g.7364dup, NW_009646203.1:g.108839dup, NW_003871076.1:g.108839dup

Select item 14912473952.

rs1491247395 has merged into rs58096861 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:119083017 (GRCh38)
11:118953727 (GRCh37)
Canonical SPDI:: NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119083005:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HMBS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.119083017_119083021del, NC_000011.10:g.119083019_119083021del, NC_000011.10:g.119083020_119083021del, NC_000011.10:g.119083021del, NC_000011.10:g.119083021dup, NC_000011.10:g.119083020_119083021dup, NC_000011.10:g.119083019_119083021dup, NC_000011.10:g.119083018_119083021dup, NC_000011.10:g.119083017_119083021dup, NC_000011.10:g.119083016_119083021dup, NC_000011.10:g.119083015_119083021dup, NC_000011.10:g.119083014_119083021dup, NC_000011.10:g.119083021_119083022insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.118953727_118953731del, NC_000011.9:g.118953729_118953731del, NC_000011.9:g.118953730_118953731del, NC_000011.9:g.118953731del, NC_000011.9:g.118953731dup, NC_000011.9:g.118953730_118953731dup, NC_000011.9:g.118953729_118953731dup, NC_000011.9:g.118953728_118953731dup, NC_000011.9:g.118953727_118953731dup, NC_000011.9:g.118953726_118953731dup, NC_000011.9:g.118953725_118953731dup, NC_000011.9:g.118953724_118953731dup, NC_000011.9:g.118953731_118953732insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029670.2:g.20236_20240del, NG_029670.2:g.20238_20240del, NG_029670.2:g.20239_20240del, NG_029670.2:g.20240del, NG_029670.2:g.20240dup, NG_029670.2:g.20239_20240dup, NG_029670.2:g.20238_20240dup, NG_029670.2:g.20237_20240dup, NG_029670.2:g.20236_20240dup, NG_029670.2:g.20235_20240dup, NG_029670.2:g.20234_20240dup, NG_029670.2:g.20233_20240dup, NG_029670.2:g.20240_20241insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008093.1:g.3141_3145del, NG_008093.1:g.3143_3145del, NG_008093.1:g.3144_3145del, NG_008093.1:g.3145del, NG_008093.1:g.3145dup, NG_008093.1:g.3144_3145dup, NG_008093.1:g.3143_3145dup, NG_008093.1:g.3142_3145dup, NG_008093.1:g.3141_3145dup, NG_008093.1:g.3140_3145dup, NG_008093.1:g.3139_3145dup, NG_008093.1:g.3138_3145dup, NG_008093.1:g.3145_3146insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646203.1:g.104616_104620del, NW_009646203.1:g.104618_104620del, NW_009646203.1:g.104619_104620del, NW_009646203.1:g.104620del, NW_009646203.1:g.104620dup, NW_009646203.1:g.104619_104620dup, NW_009646203.1:g.104618_104620dup, NW_009646203.1:g.104617_104620dup, NW_009646203.1:g.104616_104620dup, NW_009646203.1:g.104615_104620dup, NW_009646203.1:g.104614_104620dup, NW_009646203.1:g.104613_104620dup, NW_009646203.1:g.104620_104621insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871076.1:g.104616_104620del, NW_003871076.1:g.104618_104620del, NW_003871076.1:g.104619_104620del, NW_003871076.1:g.104620del, NW_003871076.1:g.104620dup, NW_003871076.1:g.104619_104620dup, NW_003871076.1:g.104618_104620dup, NW_003871076.1:g.104617_104620dup, NW_003871076.1:g.104616_104620dup, NW_003871076.1:g.104615_104620dup, NW_003871076.1:g.104614_104620dup, NW_003871076.1:g.104613_104620dup, NW_003871076.1:g.104620_104621insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912281793.

rs1491228179 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 11:119085202 (GRCh38)
11:118955912 (GRCh37)
Canonical SPDI:: NC_000011.10:119085201:GG:
Gene:: HMBS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00276/69 (ALFA)
-=0.0002/3 (ExAC)
-=0.01356/224 (TOMMO)
HGVS:: NC_000011.10:g.119085202_119085203del, NC_000011.9:g.118955912_118955913del, NG_008093.1:g.5326_5327del, NW_009646203.1:g.106801_106802del, NW_003871076.1:g.106801_106802del

Select item 14910446444.

rs1491044644 has merged into rs67448422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:119087231 (GRCh38)
11:118957941 (GRCh37)
Canonical SPDI:: NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119087220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000011.10:g.119087231_119087239del, NC_000011.10:g.119087235_119087239del, NC_000011.10:g.119087236_119087239del, NC_000011.10:g.119087237_119087239del, NC_000011.10:g.119087238_119087239del, NC_000011.10:g.119087239del, NC_000011.10:g.119087239dup, NC_000011.10:g.119087238_119087239dup, NC_000011.10:g.119087237_119087239dup, NC_000011.10:g.119087236_119087239dup, NC_000011.10:g.119087235_119087239dup, NC_000011.10:g.119087234_119087239dup, NC_000011.10:g.119087233_119087239dup, NC_000011.10:g.119087232_119087239dup, NC_000011.9:g.118957941_118957949del, NC_000011.9:g.118957945_118957949del, NC_000011.9:g.118957946_118957949del, NC_000011.9:g.118957947_118957949del, NC_000011.9:g.118957948_118957949del, NC_000011.9:g.118957949del, NC_000011.9:g.118957949dup, NC_000011.9:g.118957948_118957949dup, NC_000011.9:g.118957947_118957949dup, NC_000011.9:g.118957946_118957949dup, NC_000011.9:g.118957945_118957949dup, NC_000011.9:g.118957944_118957949dup, NC_000011.9:g.118957943_118957949dup, NC_000011.9:g.118957942_118957949dup, NG_008093.1:g.7355_7363del, NG_008093.1:g.7359_7363del, NG_008093.1:g.7360_7363del, NG_008093.1:g.7361_7363del, NG_008093.1:g.7362_7363del, NG_008093.1:g.7363del, NG_008093.1:g.7363dup, NG_008093.1:g.7362_7363dup, NG_008093.1:g.7361_7363dup, NG_008093.1:g.7360_7363dup, NG_008093.1:g.7359_7363dup, NG_008093.1:g.7358_7363dup, NG_008093.1:g.7357_7363dup, NG_008093.1:g.7356_7363dup, NW_009646203.1:g.108830_108838del, NW_009646203.1:g.108834_108838del, NW_009646203.1:g.108835_108838del, NW_009646203.1:g.108836_108838del, NW_009646203.1:g.108837_108838del, NW_009646203.1:g.108838del, NW_009646203.1:g.108838dup, NW_009646203.1:g.108837_108838dup, NW_009646203.1:g.108836_108838dup, NW_009646203.1:g.108835_108838dup, NW_009646203.1:g.108834_108838dup, NW_009646203.1:g.108833_108838dup, NW_009646203.1:g.108832_108838dup, NW_009646203.1:g.108831_108838dup, NW_003871076.1:g.108830_108838del, NW_003871076.1:g.108834_108838del, NW_003871076.1:g.108835_108838del, NW_003871076.1:g.108836_108838del, NW_003871076.1:g.108837_108838del, NW_003871076.1:g.108838del, NW_003871076.1:g.108838dup, NW_003871076.1:g.108837_108838dup, NW_003871076.1:g.108836_108838dup, NW_003871076.1:g.108835_108838dup, NW_003871076.1:g.108834_108838dup, NW_003871076.1:g.108833_108838dup, NW_003871076.1:g.108832_108838dup, NW_003871076.1:g.108831_108838dup

Select item 14907614675.

rs1490761467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:119091393 (GRCh38)
11:118962103 (GRCh37)
Canonical SPDI:: NC_000011.10:119091392:T:A
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119091393T>A, NC_000011.9:g.118962103T>A, NG_008093.1:g.11517T>A

Select item 14905955336.

rs1490595533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:119088028 (GRCh38)
11:118958738 (GRCh37)
Canonical SPDI:: NC_000011.10:119088027:T:A,NC_000011.10:119088027:T:G
Gene:: HMBS (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.119088028T>A, NC_000011.10:g.119088028T>G, NC_000011.9:g.118958738T>A, NC_000011.9:g.118958738T>G, NG_008093.1:g.8152T>A, NG_008093.1:g.8152T>G, NM_001024382.2:c.-69T>A, NM_001024382.2:c.-69T>G, NM_001024382.1:c.-69T>A, NM_001024382.1:c.-69T>G, XM_017017629.2:c.-149T>A, XM_017017629.2:c.-149T>G, XM_017017629.1:c.-149T>A, XM_017017629.1:c.-149T>G, XM_011542796.2:c.-129T>A, XM_011542796.2:c.-129T>G, XM_011542796.1:c.-129T>A, XM_011542796.1:c.-129T>G

Select item 14900640207.

rs1490064020 has merged into rs71485284 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:119086671 (GRCh38)
11:118957381 (GRCh37)
Canonical SPDI:: NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:119086665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000011.10:g.119086671_119086679del, NC_000011.10:g.119086673_119086679del, NC_000011.10:g.119086674_119086679del, NC_000011.10:g.119086675_119086679del, NC_000011.10:g.119086676_119086679del, NC_000011.10:g.119086677_119086679del, NC_000011.10:g.119086678_119086679del, NC_000011.10:g.119086679del, NC_000011.10:g.119086679dup, NC_000011.10:g.119086678_119086679dup, NC_000011.10:g.119086677_119086679dup, NC_000011.10:g.119086676_119086679dup, NC_000011.10:g.119086675_119086679dup, NC_000011.10:g.119086674_119086679dup, NC_000011.10:g.119086673_119086679dup, NC_000011.10:g.119086672_119086679dup, NC_000011.9:g.118957381_118957389del, NC_000011.9:g.118957383_118957389del, NC_000011.9:g.118957384_118957389del, NC_000011.9:g.118957385_118957389del, NC_000011.9:g.118957386_118957389del, NC_000011.9:g.118957387_118957389del, NC_000011.9:g.118957388_118957389del, NC_000011.9:g.118957389del, NC_000011.9:g.118957389dup, NC_000011.9:g.118957388_118957389dup, NC_000011.9:g.118957387_118957389dup, NC_000011.9:g.118957386_118957389dup, NC_000011.9:g.118957385_118957389dup, NC_000011.9:g.118957384_118957389dup, NC_000011.9:g.118957383_118957389dup, NC_000011.9:g.118957382_118957389dup, NG_008093.1:g.6795_6803del, NG_008093.1:g.6797_6803del, NG_008093.1:g.6798_6803del, NG_008093.1:g.6799_6803del, NG_008093.1:g.6800_6803del, NG_008093.1:g.6801_6803del, NG_008093.1:g.6802_6803del, NG_008093.1:g.6803del, NG_008093.1:g.6803dup, NG_008093.1:g.6802_6803dup, NG_008093.1:g.6801_6803dup, NG_008093.1:g.6800_6803dup, NG_008093.1:g.6799_6803dup, NG_008093.1:g.6798_6803dup, NG_008093.1:g.6797_6803dup, NG_008093.1:g.6796_6803dup, NW_009646203.1:g.108270_108278del, NW_009646203.1:g.108272_108278del, NW_009646203.1:g.108273_108278del, NW_009646203.1:g.108274_108278del, NW_009646203.1:g.108275_108278del, NW_009646203.1:g.108276_108278del, NW_009646203.1:g.108277_108278del, NW_009646203.1:g.108278del, NW_009646203.1:g.108278dup, NW_009646203.1:g.108277_108278dup, NW_009646203.1:g.108276_108278dup, NW_009646203.1:g.108275_108278dup, NW_009646203.1:g.108274_108278dup, NW_009646203.1:g.108273_108278dup, NW_009646203.1:g.108272_108278dup, NW_009646203.1:g.108271_108278dup, NW_003871076.1:g.108270_108278del, NW_003871076.1:g.108272_108278del, NW_003871076.1:g.108273_108278del, NW_003871076.1:g.108274_108278del, NW_003871076.1:g.108275_108278del, NW_003871076.1:g.108276_108278del, NW_003871076.1:g.108277_108278del, NW_003871076.1:g.108278del, NW_003871076.1:g.108278dup, NW_003871076.1:g.108277_108278dup, NW_003871076.1:g.108276_108278dup, NW_003871076.1:g.108275_108278dup, NW_003871076.1:g.108274_108278dup, NW_003871076.1:g.108273_108278dup, NW_003871076.1:g.108272_108278dup, NW_003871076.1:g.108271_108278dup

Select item 14897526448.

rs1489752644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119094036 (GRCh38)
11:118964746 (GRCh37)
Canonical SPDI:: NC_000011.10:119094035:G:A
Gene:: DPAGT1 (Varview), H2AX (Varview), HMBS (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_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_000011.10:g.119094036G>A, NC_000011.9:g.118964746G>A, NG_008093.1:g.14160G>A, NM_002105.3:c.*927C>T, NM_002105.2:c.*927C>T, XM_047426508.1:c.*2764C>T

Select item 14894647319.

rs1489464731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:119085212 (GRCh38)
11:118955922 (GRCh37)
Canonical SPDI:: NC_000011.10:119085211:G:A,NC_000011.10:119085211:G:T
Gene:: HMBS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00018/3 (TOMMO)
HGVS:: NC_000011.10:g.119085212G>A, NC_000011.10:g.119085212G>T, NC_000011.9:g.118955922G>A, NC_000011.9:g.118955922G>T, NG_008093.1:g.5336G>A, NG_008093.1:g.5336G>T, NW_009646203.1:g.106811G>A, NW_009646203.1:g.106811G>T, NW_003871076.1:g.106811G>A, NW_003871076.1:g.106811G>T

Select item 148943371910.

rs1489433719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119083451 (GRCh38)
11:118954161 (GRCh37)
Canonical SPDI:: NC_000011.10:119083450:A:G
Gene:: HMBS (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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119083451A>G, NC_000011.9:g.118954161A>G, NG_029670.2:g.20670A>G, NG_008093.1:g.3575A>G, NW_009646203.1:g.105050A>G, NW_003871076.1:g.105050A>G

Select item 148925801211.

rs1489258012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119091590 (GRCh38)
11:118962300 (GRCh37)
Canonical SPDI:: NC_000011.10:119091589:C:T
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119091590C>T, NC_000011.9:g.118962300C>T, NG_008093.1:g.11714C>T

Select item 148892217112.

rs1488922171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:119089740 (GRCh38)
11:118960450 (GRCh37)
Canonical SPDI:: NC_000011.10:119089739:C:A
Gene:: HMBS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119089740C>A, NC_000011.9:g.118960450C>A, NG_008093.1:g.9864C>A, NM_000190.4:c.324C>A, NM_000190.3:c.324C>A, NM_001258209.2:c.273C>A, NM_001258209.1:c.273C>A, NM_001024382.2:c.273C>A, NM_001024382.1:c.273C>A, NM_001258208.2:c.324C>A, NM_001258208.1:c.324C>A, XM_005271533.4:c.270C>A, XM_005271533.3:c.270C>A, XM_005271533.2:c.270C>A, XM_005271533.1:c.270C>A, XM_005271531.2:c.273C>A, XM_005271531.1:c.273C>A, XM_005271532.2:c.273C>A, XM_005271532.1:c.273C>A, XM_017017629.2:c.273C>A, XM_017017629.1:c.273C>A, XM_011542796.2:c.159C>A, XM_011542796.1:c.159C>A, XM_024448460.2:c.270C>A, XM_024448460.1:c.270C>A, NP_000181.2:p.Phe108Leu, NP_001245138.1:p.Phe91Leu, NP_001019553.1:p.Phe91Leu, NP_001245137.1:p.Phe108Leu, XP_005271590.1:p.Phe90Leu, XP_005271588.1:p.Phe91Leu, XP_005271589.1:p.Phe91Leu, XP_016873118.1:p.Phe91Leu, XP_011541098.1:p.Phe53Leu, XP_024304228.1:p.Phe90Leu

Select item 148877926813.

rs1488779268 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:119093621 (GRCh38)
11:118964331 (GRCh37)
Canonical SPDI:: NC_000011.10:119093620:CT:
Gene:: DPAGT1 (Varview), H2AX (Varview), HMBS (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119093621_119093622del, NC_000011.9:g.118964331_118964332del, NG_008093.1:g.13745_13746del

Select item 148847467114.

rs1488474671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119084639 (GRCh38)
11:118955349 (GRCh37)
Canonical SPDI:: NC_000011.10:119084638:G:C
Gene:: HMBS (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.119084639G>C, NC_000011.9:g.118955349G>C, NG_008093.1:g.4763G>C, NW_009646203.1:g.106238G>C, NW_003871076.1:g.106238G>C

Select item 148838651015.

rs1488386510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119088176 (GRCh38)
11:118958886 (GRCh37)
Canonical SPDI:: NC_000011.10:119088175:C:T
Gene:: HMBS (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119088176C>T, NC_000011.9:g.118958886C>T, NG_008093.1:g.8300C>T, XM_017017629.2:c.-97C>T, XM_017017629.1:c.-97C>T

Select item 148827901416.

rs1488279014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119091140 (GRCh38)
11:118961850 (GRCh37)
Canonical SPDI:: NC_000011.10:119091139:T:C
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119091140T>C, NC_000011.9:g.118961850T>C, NG_008093.1:g.11264T>C

Select item 148824732117.

rs1488247321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119092183 (GRCh38)
11:118962893 (GRCh37)
Canonical SPDI:: NC_000011.10:119092182:C:T
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.119092183C>T, NC_000011.9:g.118962893C>T, NG_008093.1:g.12307C>T

Select item 148814401218.

rs1488144012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119089972 (GRCh38)
11:118960682 (GRCh37)
Canonical SPDI:: NC_000011.10:119089971:C:T
Gene:: HMBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119089972C>T, NC_000011.9:g.118960682C>T, NG_008093.1:g.10096C>T

Select item 148804853919.

rs1488048539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:119086674 (GRCh38)
11:118957384 (GRCh37)
Canonical SPDI:: NC_000011.10:119086673:A:G,NC_000011.10:119086673:A:T
Gene:: HMBS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00347/55 (ALFA)
T=0.00171/5 (KOREAN)
T=0.01042/6 (NorthernSweden)
T=0.01386/1048 (GnomAD)
A=0.5/13 (SGDP_PRJ)
HGVS:: NC_000011.10:g.119086674A>G, NC_000011.10:g.119086674A>T, NC_000011.9:g.118957384A>G, NC_000011.9:g.118957384A>T, NG_008093.1:g.6798A>G, NG_008093.1:g.6798A>T, NW_009646203.1:g.108273A>G, NW_009646203.1:g.108273A>T, NW_003871076.1:g.108273A>G, NW_003871076.1:g.108273A>T

Select item 148781955320.

rs1487819553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119092775 (GRCh38)
11:118963485 (GRCh37)
Canonical SPDI:: NC_000011.10:119092774:G:A
Gene:: HMBS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119092775G>A, NC_000011.9:g.118963485G>A, NG_008093.1:g.12899G>A, NM_000190.4:c.789G>A, NM_000190.3:c.789G>A, NM_001258209.2:c.618G>A, NM_001258209.1:c.618G>A, NM_001024382.2:c.738G>A, NM_001024382.1:c.738G>A, NM_001258208.2:c.669G>A, NM_001258208.1:c.669G>A, XM_005271533.4:c.735G>A, XM_005271533.3:c.735G>A, XM_005271533.2:c.735G>A, XM_005271533.1:c.735G>A, XM_005271531.2:c.738G>A, XM_005271531.1:c.738G>A, XM_005271532.2:c.738G>A, XM_005271532.1:c.738G>A, XM_017017629.2:c.738G>A, XM_017017629.1:c.738G>A, XM_011542796.2:c.624G>A, XM_011542796.1:c.624G>A, XM_024448460.2:c.615G>A, XM_024448460.1:c.615G>A

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