SNP Links for Gene (Select 57824) - SNP

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Select item 14909870551.

rs1490987055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:143814949 (GRCh38)
5:143194514 (GRCh37)
Canonical SPDI:: NC_000005.10:143814948:T:C
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.143814949T>C, NC_000005.9:g.143194514T>C

Select item 14906850352.

rs1490685035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:143815865 (GRCh38)
5:143195430 (GRCh37)
Canonical SPDI:: NC_000005.10:143815864:C:T
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.143815865C>T, NC_000005.9:g.143195430C>T

Select item 14899127783.

rs1489912778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:143811218 (GRCh38)
5:143190783 (GRCh37)
Canonical SPDI:: NC_000005.10:143811217:C:A
Gene:: HMHB1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.143811218C>A, NC_000005.9:g.143190783C>A

Select item 14897645374.

rs1489764537 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:143814066 (GRCh38)
5:143193631 (GRCh37)
Canonical SPDI:: NC_000005.10:143814065:C:
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.143814066del, NC_000005.9:g.143193631del

Select item 14896460255.

rs1489646025 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14889051036.

rs1488905103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:143813835 (GRCh38)
5:143193400 (GRCh37)
Canonical SPDI:: NC_000005.10:143813834:A:G
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.143813835A>G, NC_000005.9:g.143193400A>G

Select item 14888063517.

rs1488806351 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTTT [Show Flanks]
Chromosome:: 5:143812950 (GRCh38)
5:143192516 (GRCh37)
Canonical SPDI:: NC_000005.10:143812950::C,NC_000005.10:143812950::CTTT
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.143812950_143812951insC, NC_000005.10:g.143812950_143812951insCTTT, NC_000005.9:g.143192515_143192516insC, NC_000005.9:g.143192515_143192516insCTTT

Select item 14883325058.

rs1488332505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:143818365 (GRCh38)
5:143197930 (GRCh37)
Canonical SPDI:: NC_000005.10:143818364:C:A
Gene:: HMHB1 (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=0.000354/6 (TOMMO)
A=0.002183/4 (Korea1K)
A=0.002738/8 (KOREAN)
HGVS:: NC_000005.10:g.143818365C>A, NC_000005.9:g.143197930C>A

Select item 14882623109.

rs1488262310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:143817214 (GRCh38)
5:143196779 (GRCh37)
Canonical SPDI:: NC_000005.10:143817213:G:T
Gene:: HMHB1 (Varview)
Functional Consequence:: 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_000005.10:g.143817214G>T, NC_000005.9:g.143196779G>T

Select item 148808368310.

rs1488083683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:143813623 (GRCh38)
5:143193188 (GRCh37)
Canonical SPDI:: NC_000005.10:143813622:G:A,NC_000005.10:143813622:G:C
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.143813623G>A, NC_000005.10:g.143813623G>C, NC_000005.9:g.143193188G>A, NC_000005.9:g.143193188G>C

Select item 148764725211.

rs1487647252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:143813719 (GRCh38)
5:143193284 (GRCh37)
Canonical SPDI:: NC_000005.10:143813718:T:C,NC_000005.10:143813718:T:G
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.143813719T>C, NC_000005.10:g.143813719T>G, NC_000005.9:g.143193284T>C, NC_000005.9:g.143193284T>G

Select item 148749079412.

rs1487490794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:143812227 (GRCh38)
5:143191792 (GRCh37)
Canonical SPDI:: NC_000005.10:143812226:G:C
Gene:: HMHB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.143812227G>C, NC_000005.9:g.143191792G>C, NM_021182.3:c.-41G>C, NM_021182.2:c.-41G>C, NM_021182.1:c.-41G>C

Select item 148656170113.

rs1486561701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:143819570 (GRCh38)
5:143199135 (GRCh37)
Canonical SPDI:: NC_000005.10:143819569:G:T
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.143819570G>T, NC_000005.9:g.143199135G>T

Select item 148652925314.

rs1486529253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:143811580 (GRCh38)
5:143191145 (GRCh37)
Canonical SPDI:: NC_000005.10:143811579:T:G
Gene:: HMHB1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.143811580T>G, NC_000005.9:g.143191145T>G

Select item 148623195115.

rs1486231951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:143817599 (GRCh38)
5:143197164 (GRCh37)
Canonical SPDI:: NC_000005.10:143817598:T:G
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.143817599T>G, NC_000005.9:g.143197164T>G

Select item 148615321116.

rs1486153211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:143819065 (GRCh38)
5:143198630 (GRCh37)
Canonical SPDI:: NC_000005.10:143819064:C:T
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.143819065C>T, NC_000005.9:g.143198630C>T

Select item 148614812217.

rs1486148122 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:143816640 (GRCh38)
5:143196205 (GRCh37)
Canonical SPDI:: NC_000005.10:143816639:G:
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.143816640del, NC_000005.9:g.143196205del

Select item 148612085818.

rs1486120858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:143815718 (GRCh38)
5:143195283 (GRCh37)
Canonical SPDI:: NC_000005.10:143815717:G:C,NC_000005.10:143815717:G:T
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000865/16 (ALFA)
C=0.000017/2 (GnomAD)
T=0.028906/84 (KOREAN)
HGVS:: NC_000005.10:g.143815718G>C, NC_000005.10:g.143815718G>T, NC_000005.9:g.143195283G>C, NC_000005.9:g.143195283G>T

Select item 148587902919.

rs1485879029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:143815105 (GRCh38)
5:143194670 (GRCh37)
Canonical SPDI:: NC_000005.10:143815104:G:C
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000283/5 (TOMMO)
HGVS:: NC_000005.10:g.143815105G>C, NC_000005.9:g.143194670G>C

Select item 148578786020.

rs1485787860 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:143819633 (GRCh38)
5:143199198 (GRCh37)
Canonical SPDI:: NC_000005.10:143819632:T:
Gene:: HMHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.143819633del, NC_000005.9:g.143199198del

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