SNP Links for Gene (Select 84941) - SNP

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Select item 14915198191.

rs1491519819 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 19:16144687 (GRCh38)
19:16255498 (GRCh37)
Canonical SPDI:: NC_000019.10:16144687::A,NC_000019.10:16144687::G
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.16144687_16144688insA, NC_000019.10:g.16144687_16144688insG, NC_000019.9:g.16255497_16255498insA, NC_000019.9:g.16255497_16255498insG

Select item 14914498862.

rs1491449886 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:16134977 (GRCh38)
19:16245788 (GRCh37)
Canonical SPDI:: NC_000019.10:16134977::C
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16134977_16134978insC, NC_000019.9:g.16245787_16245788insC

Select item 14912752623.

rs1491275262 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGT,GT,GTT,GTTT,GTTTTTT [Show Flanks]
Chromosome:: 19:16145037 (GRCh38)
19:16255848 (GRCh37)
Canonical SPDI:: NC_000019.10:16145037::GGT,NC_000019.10:16145037::GT,NC_000019.10:16145037::GTT,NC_000019.10:16145037::GTTT,NC_000019.10:16145037::GTTTTTT
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTTTT=0.00012/2 (ALFA)
HGVS:: NC_000019.10:g.16145037_16145038insGGT, NC_000019.10:g.16145037_16145038insGT, NC_000019.10:g.16145037_16145038insGTT, NC_000019.10:g.16145037_16145038insGTTT, NC_000019.10:g.16145037_16145038insGTTTTTT, NC_000019.9:g.16255847_16255848insGGT, NC_000019.9:g.16255847_16255848insGT, NC_000019.9:g.16255847_16255848insGTT, NC_000019.9:g.16255847_16255848insGTTT, NC_000019.9:g.16255847_16255848insGTTTTTT

Select item 14912592174.

rs1491259217 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:16145037 (GRCh38)
19:16255847 (GRCh37)
Canonical SPDI:: NC_000019.10:16145036:GT:
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000047/6 (GnomAD)
HGVS:: NC_000019.10:g.16145037_16145038del, NC_000019.9:g.16255847_16255848del

Select item 14911837995.

rs1491183799 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:16144316 (GRCh38)
19:16255126 (GRCh37)
Canonical SPDI:: NC_000019.10:16144315:AG:
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.16144316_16144317del, NC_000019.9:g.16255126_16255127del

Select item 14911636316.

rs1491163631 has merged into rs35070155 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:16144698 (GRCh38)
19:16255508 (GRCh37)
Canonical SPDI:: NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:16144686:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.16144698_16144710del, NC_000019.10:g.16144699_16144710del, NC_000019.10:g.16144700_16144710del, NC_000019.10:g.16144701_16144710del, NC_000019.10:g.16144702_16144710del, NC_000019.10:g.16144703_16144710del, NC_000019.10:g.16144704_16144710del, NC_000019.10:g.16144705_16144710del, NC_000019.10:g.16144706_16144710del, NC_000019.10:g.16144707_16144710del, NC_000019.10:g.16144708_16144710del, NC_000019.10:g.16144709_16144710del, NC_000019.10:g.16144710del, NC_000019.10:g.16144710dup, NC_000019.10:g.16144709_16144710dup, NC_000019.10:g.16144708_16144710dup, NC_000019.10:g.16144707_16144710dup, NC_000019.10:g.16144706_16144710dup, NC_000019.10:g.16144705_16144710dup, NC_000019.10:g.16144704_16144710dup, NC_000019.10:g.16144703_16144710dup, NC_000019.10:g.16144702_16144710dup, NC_000019.10:g.16144701_16144710dup, NC_000019.10:g.16144700_16144710dup, NC_000019.10:g.16144699_16144710dup, NC_000019.10:g.16144698_16144710dup, NC_000019.10:g.16144697_16144710dup, NC_000019.10:g.16144695_16144710dup, NC_000019.10:g.16144692_16144710dup, NC_000019.10:g.16144689_16144710dup, NC_000019.10:g.16144710_16144711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.16144710_16144711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.16144710_16144711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.16255508_16255520del, NC_000019.9:g.16255509_16255520del, NC_000019.9:g.16255510_16255520del, NC_000019.9:g.16255511_16255520del, NC_000019.9:g.16255512_16255520del, NC_000019.9:g.16255513_16255520del, NC_000019.9:g.16255514_16255520del, NC_000019.9:g.16255515_16255520del, NC_000019.9:g.16255516_16255520del, NC_000019.9:g.16255517_16255520del, NC_000019.9:g.16255518_16255520del, NC_000019.9:g.16255519_16255520del, NC_000019.9:g.16255520del, NC_000019.9:g.16255520dup, NC_000019.9:g.16255519_16255520dup, NC_000019.9:g.16255518_16255520dup, NC_000019.9:g.16255517_16255520dup, NC_000019.9:g.16255516_16255520dup, NC_000019.9:g.16255515_16255520dup, NC_000019.9:g.16255514_16255520dup, NC_000019.9:g.16255513_16255520dup, NC_000019.9:g.16255512_16255520dup, NC_000019.9:g.16255511_16255520dup, NC_000019.9:g.16255510_16255520dup, NC_000019.9:g.16255509_16255520dup, NC_000019.9:g.16255508_16255520dup, NC_000019.9:g.16255507_16255520dup, NC_000019.9:g.16255505_16255520dup, NC_000019.9:g.16255502_16255520dup, NC_000019.9:g.16255499_16255520dup, NC_000019.9:g.16255520_16255521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.16255520_16255521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.16255520_16255521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910803067.

rs1491080306 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:16155621 (GRCh38)
19:16266432 (GRCh37)
Canonical SPDI:: NC_000019.10:16155621::C
Gene:: HSH2D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.16155621_16155622insC, NC_000019.9:g.16266431_16266432insC

Select item 14908571168.

rs1490857116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:16138890 (GRCh38)
19:16249700 (GRCh37)
Canonical SPDI:: NC_000019.10:16138889:A:G
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00328/6 (Korea1K)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.16138890A>G, NC_000019.9:g.16249700A>G

Select item 14907723729.

rs1490772372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:16146797 (GRCh38)
19:16257607 (GRCh37)
Canonical SPDI:: NC_000019.10:16146796:T:A
Gene:: HSH2D (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)
HGVS:: NC_000019.10:g.16146797T>A, NC_000019.9:g.16257607T>A

Select item 149077121410.

rs1490771214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:16142928 (GRCh38)
19:16253738 (GRCh37)
Canonical SPDI:: NC_000019.10:16142927:A:C,NC_000019.10:16142927:A:T
Gene:: HSH2D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.16142928A>C, NC_000019.10:g.16142928A>T, NC_000019.9:g.16253738A>C, NC_000019.9:g.16253738A>T

Select item 149067408611.

rs1490674086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:16147278 (GRCh38)
19:16258088 (GRCh37)
Canonical SPDI:: NC_000019.10:16147277:A:C
Gene:: HSH2D (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_000019.10:g.16147278A>C, NC_000019.9:g.16258088A>C

Select item 149065813312.

rs1490658133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16154395 (GRCh38)
19:16265205 (GRCh37)
Canonical SPDI:: NC_000019.10:16154394:G:A
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.16154395G>A, NC_000019.9:g.16265205G>A

Select item 149055447913.

rs1490554479 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 19:16156670 (GRCh38)
19:16267481 (GRCh37)
Canonical SPDI:: NC_000019.10:16156670::GT
Gene:: HSH2D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16156670_16156671insGT, NC_000019.9:g.16267480_16267481insGT

Select item 149040452414.

rs1490404524 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG [Show Flanks]
Chromosome:: 19:16153814 (GRCh38)
19:16264624 (GRCh37)
Canonical SPDI:: NC_000019.10:16153810:GGGGGG:GGG,NC_000019.10:16153810:GGGGGG:GGGGG
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.16153814_16153816del, NC_000019.10:g.16153816del, NC_000019.9:g.16264624_16264626del, NC_000019.9:g.16264626del

Select item 149028004415.

rs1490280044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:16143618 (GRCh38)
19:16254428 (GRCh37)
Canonical SPDI:: NC_000019.10:16143617:T:C
Gene:: HSH2D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_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_000019.10:g.16143618T>C, NC_000019.9:g.16254428T>C

Select item 149021796816.

rs1490217968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:16140394 (GRCh38)
19:16251204 (GRCh37)
Canonical SPDI:: NC_000019.10:16140393:C:T
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.16140394C>T, NC_000019.9:g.16251204C>T

Select item 149019275217.

rs1490192752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16139355 (GRCh38)
19:16250165 (GRCh37)
Canonical SPDI:: NC_000019.10:16139354:G:A
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.16139355G>A, NC_000019.9:g.16250165G>A

Select item 149010386618.

rs1490103866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:16133208 (GRCh38)
19:16244018 (GRCh37)
Canonical SPDI:: NC_000019.10:16133207:G:A
Gene:: RAB8A (Varview), HSH2D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.16133208G>A, NC_000019.9:g.16244018G>A, NM_005370.5:c.*904G>A, NM_005370.4:c.*904G>A

Select item 148980388119.

rs1489803881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:16145890 (GRCh38)
19:16256700 (GRCh37)
Canonical SPDI:: NC_000019.10:16145889:A:G
Gene:: HSH2D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.16145890A>G, NC_000019.9:g.16256700A>G

Select item 148980149820.

rs1489801498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:16142763 (GRCh38)
19:16253573 (GRCh37)
Canonical SPDI:: NC_000019.10:16142762:G:A,NC_000019.10:16142762:G:T
Gene:: HSH2D (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.16142763G>A, NC_000019.10:g.16142763G>T, NC_000019.9:g.16253573G>A, NC_000019.9:g.16253573G>T

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