SNP Links for Gene (Select 3187) - SNP

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179625659 (GRCh38)
5:179052660 (GRCh37)
Canonical SPDI:: NC_000005.10:179625658:CA:
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000005.10:g.179625659_179625660del, NC_000005.9:g.179052660_179052661del, NW_016107298.1:g.391939_391940del

Select item 14912229998.

rs1491222999 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:179625488 (GRCh38)
5:179052490 (GRCh37)
Canonical SPDI:: NC_000005.10:179625488::C
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.179625488_179625489insC, NC_000005.9:g.179052489_179052490insC, NW_016107298.1:g.391768_391769insC

Select item 14909073339.

rs1490907333 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTTT>- [Show Flanks]
Chromosome:: 5:179625775 (GRCh38)
5:179052776 (GRCh37)
Canonical SPDI:: NC_000005.10:179625774:TTTTTT:
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.179625775_179625780del, NC_000005.9:g.179052776_179052781del, NW_016107298.1:g.392055_392060del

Select item 149088877510.

rs1490888775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179616756 (GRCh38)
5:179043757 (GRCh37)
Canonical SPDI:: NC_000005.10:179616755:G:A
Gene:: HNRNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179616756G>A, NC_000005.9:g.179043757G>A, NW_016107298.1:g.383030G>A

Select item 149076145511.

rs1490761455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:179621598 (GRCh38)
5:179048599 (GRCh37)
Canonical SPDI:: NC_000005.10:179621597:A:C
Gene:: HNRNPH1 (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_000005.10:g.179621598A>C, NC_000005.9:g.179048599A>C, NW_016107298.1:g.387873A>C

Select item 149062557412.

rs1490625574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:179618089 (GRCh38)
5:179045090 (GRCh37)
Canonical SPDI:: NC_000005.10:179618088:A:T
Gene:: HNRNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179618089A>T, NC_000005.9:g.179045090A>T, NW_016107298.1:g.384363A>T

Select item 149061954913.

rs1490619549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:179631688 (GRCh38)
5:179058689 (GRCh37)
Canonical SPDI:: NC_000005.10:179631687:G:A,NC_000005.10:179631687:G:T
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000068/18 (TOPMED)
HGVS:: NC_000005.10:g.179631688G>A, NC_000005.10:g.179631688G>T, NC_000005.9:g.179058689G>A, NC_000005.9:g.179058689G>T, NW_016107298.1:g.397921G>A, NW_016107298.1:g.397921G>T

Select item 149056290614.

rs1490562906 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 5:179632262 (GRCh38)
5:179059264 (GRCh37)
Canonical SPDI:: NC_000005.10:179632262::ACA
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.00076/9 (ALFA)
HGVS:: NC_000005.10:g.179632262_179632263insACA, NC_000005.9:g.179059263_179059264insACA, NW_016107298.1:g.398486_398487insACA

Select item 149040261615.

rs1490402616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:179621092 (GRCh38)
5:179048093 (GRCh37)
Canonical SPDI:: NC_000005.10:179621091:C:A
Gene:: HNRNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179621092C>A, NC_000005.9:g.179048093C>A, NW_016107298.1:g.387367C>A

Select item 149038819116.

rs1490388191 [Homo sapiens]

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

Select item 149035155817.

rs1490351558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:179629221 (GRCh38)
5:179056222 (GRCh37)
Canonical SPDI:: NC_000005.10:179629220:C:G,NC_000005.10:179629220:C:T
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000158/22 (GnomAD)
T=0.000546/1 (Korea1K)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000005.10:g.179629221C>G, NC_000005.10:g.179629221C>T, NC_000005.9:g.179056222C>G, NC_000005.9:g.179056222C>T, NW_016107298.1:g.395509C>G, NW_016107298.1:g.395509C>T

Select item 149016762018.

rs1490167620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179614813 (GRCh38)
5:179041814 (GRCh37)
Canonical SPDI:: NC_000005.10:179614812:C:T
Gene:: HNRNPH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.179614813C>T, NC_000005.9:g.179041814C>T, NW_016107298.1:g.381087C>T, NM_005520.3:c.*147G>A, NM_005520.2:c.*147G>A, NM_001364236.2:c.*147G>A, NM_001364236.1:c.*147G>A, NM_001364241.2:c.*147G>A, NM_001364241.1:c.*147G>A, NM_001364227.2:c.*28G>A, NM_001364227.1:c.*28G>A, NM_001364239.2:c.*147G>A, NM_001364239.1:c.*147G>A, NM_001364243.2:c.*147G>A, NM_001364243.1:c.*147G>A, NM_001364238.2:c.*147G>A, NM_001364238.1:c.*147G>A, NM_001257293.2:c.*147G>A, NM_001257293.1:c.*147G>A, NM_001364244.2:c.*147G>A, NM_001364244.1:c.*147G>A, NM_001364231.2:c.*147G>A, NM_001364231.1:c.*147G>A, NM_001364229.2:c.*28G>A, NM_001364229.1:c.*28G>A, NM_001364246.2:c.*147G>A, NM_001364246.1:c.*147G>A, NM_001364245.2:c.*147G>A, NM_001364245.1:c.*147G>A, NM_001364242.2:c.*147G>A, NM_001364242.1:c.*147G>A, NM_001364248.2:c.*147G>A, NM_001364248.1:c.*147G>A, NM_001364228.2:c.*28G>A, NM_001364228.1:c.*28G>A, NM_001364247.2:c.*147G>A, NM_001364247.1:c.*147G>A, NM_001363572.2:c.*147G>A, NM_001363572.1:c.*147G>A, NM_001364232.2:c.*28G>A, NM_001364232.1:c.*28G>A, NM_001364255.2:c.*147G>A, NM_001364255.1:c.*147G>A, NM_001364230.2:c.*28G>A, NM_001364230.1:c.*28G>A, NM_001364250.2:c.*147G>A, NM_001364250.1:c.*147G>A, NM_001364240.2:c.*28G>A, NM_001364240.1:c.*28G>A, NM_001364254.2:c.*147G>A, NM_001364254.1:c.*147G>A, NM_001364252.2:c.*28G>A, NM_001364252.1:c.*28G>A, NM_001364251.2:c.*28G>A, NM_001364251.1:c.*28G>A, NM_001364234.2:c.*147G>A, NM_001364234.1:c.*147G>A, NM_001364226.2:c.*28G>A, NM_001364226.1:c.*28G>A, NM_001364235.2:c.*147G>A, NM_001364235.1:c.*147G>A, NM_001364253.2:c.*28G>A, NM_001364253.1:c.*28G>A, NM_001364225.2:c.*28G>A, NM_001364225.1:c.*28G>A, NM_001364233.2:c.*147G>A, NM_001364233.1:c.*147G>A, NM_001364237.2:c.*147G>A, NM_001364237.1:c.*147G>A, NM_001395194.1:c.*147G>A, NM_001395176.1:c.*147G>A, NM_001395195.1:c.*147G>A, NM_001395183.1:c.*147G>A, NM_001395184.1:c.*147G>A, NM_001395188.1:c.*147G>A, NM_001395187.1:c.*147G>A, NM_001395179.1:c.*28G>A, NM_001395177.1:c.*28G>A, NM_001395180.1:c.*28G>A, NM_001395181.1:c.*28G>A, NM_001395191.1:c.*147G>A, NM_001395192.1:c.*147G>A, NM_001395189.1:c.*147G>A, NM_001395190.1:c.*147G>A, NM_001395182.1:c.*147G>A, NM_001395193.1:c.*147G>A, NM_001395186.1:c.*147G>A, NM_001395178.1:c.*28G>A

Select item 149004783119.

rs1490047831 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 5:179632269 (GRCh38)
5:179059271 (GRCh37)
Canonical SPDI:: NC_000005.10:179632269::TA
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TA=0.00121/169 (GnomAD)
TA=0.001874/12 (1000Genomes)
HGVS:: NC_000005.10:g.179632269_179632270insTA, NC_000005.9:g.179059270_179059271insTA, NW_016107298.1:g.398493_398494insTA

Select item 148989577620.

rs1489895776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179631704 (GRCh38)
5:179058705 (GRCh37)
Canonical SPDI:: NC_000005.10:179631703:G:A
Gene:: HNRNPH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.179631704G>A, NC_000005.9:g.179058705G>A, NW_016107298.1:g.397937G>A

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 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity