SNP Links for Gene (Select 84868) - SNP

Links from Gene

Items: 1 to 20 of 5878

<< First< Prev

Page of 294

Next >Last >>

Select item 14913054991.

rs1491305499 has merged into rs796159929 [Homo sapiens]

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

Select item 14909214072.

rs1490921407 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 5:157094041 (GRCh38)
5:156521052 (GRCh37)
Canonical SPDI:: NC_000005.10:157094037:CTTCTT:CTT
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000067/9 (GnomAD)
HGVS:: NC_000005.10:g.157094038CTT[1], NC_000005.9:g.156521049CTT[1], NG_030444.1:g.20195AAG[1]

Select item 14908094013.

rs1490809401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:157096211 (GRCh38)
5:156523222 (GRCh37)
Canonical SPDI:: NC_000005.10:157096210:C:A,NC_000005.10:157096210:C:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.157096211C>A, NC_000005.10:g.157096211C>T, NC_000005.9:g.156523222C>A, NC_000005.9:g.156523222C>T, NG_030444.1:g.18027G>T, NG_030444.1:g.18027G>A

Select item 14907366624.

rs1490736662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157099027 (GRCh38)
5:156526038 (GRCh37)
Canonical SPDI:: NC_000005.10:157099026:A:G
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00021/4 (TOMMO)
G=0.00055/1 (Korea1K)
HGVS:: NC_000005.10:g.157099027A>G, NC_000005.9:g.156526038A>G, NG_030444.1:g.15211T>C

Select item 14907113415.

rs1490711341 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTAC>- [Show Flanks]
Chromosome:: 5:157099130 (GRCh38)
5:156526141 (GRCh37)
Canonical SPDI:: NC_000005.10:157099127:ACCGTAC:AC
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.157099130_157099134del, NC_000005.9:g.156526141_156526145del, NG_030444.1:g.15106_15110del

Select item 14906458416.

rs1490645841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:157094906 (GRCh38)
5:156521917 (GRCh37)
Canonical SPDI:: NC_000005.10:157094905:C:A,NC_000005.10:157094905:C:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157094906C>A, NC_000005.10:g.157094906C>T, NC_000005.9:g.156521917C>A, NC_000005.9:g.156521917C>T, NG_030444.1:g.19332G>T, NG_030444.1:g.19332G>A

Select item 14905705277.

rs1490570527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157091938 (GRCh38)
5:156518949 (GRCh37)
Canonical SPDI:: NC_000005.10:157091937:C:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.157091938C>T, NC_000005.9:g.156518949C>T, NG_030444.1:g.22300G>A

Select item 14905062928.

rs1490506292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157106939 (GRCh38)
5:156533950 (GRCh37)
Canonical SPDI:: NC_000005.10:157106938:C:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157106939C>T, NC_000005.9:g.156533950C>T, NG_030444.1:g.7299G>A, NM_032782.5:c.82G>A, NM_032782.4:c.82G>A, NP_116171.3:p.Ala28Thr

Select item 14903828109.

rs1490382810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:157111039 (GRCh38)
5:156538051 (GRCh37)
Canonical SPDI:: NC_000005.10:157111039:TTTTT:TTTTTT
Gene:: HAVCR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0.001686/20 (ALFA)
T=0.002001/280 (GnomAD)
T=0.003748/24 (1000Genomes)
HGVS:: NC_000005.10:g.157111044dup, NC_000005.9:g.156538055dup, NG_030444.1:g.3198dup

Select item 149022615410.

rs1490226154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:157110182 (GRCh38)
5:156537193 (GRCh37)
Canonical SPDI:: NC_000005.10:157110181:G:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157110182G>T, NC_000005.9:g.156537193G>T, NG_030444.1:g.4056C>A

Select item 149010284511.

rs1490102845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:157092930 (GRCh38)
5:156519941 (GRCh37)
Canonical SPDI:: NC_000005.10:157092929:T:G
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00085/14 (TOMMO)
HGVS:: NC_000005.10:g.157092930T>G, NC_000005.9:g.156519941T>G, NG_030444.1:g.21308A>C

Select item 149001293912.

rs1490012939 has merged into rs1221167508 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:157097263 (GRCh38)
5:156524274 (GRCh37)
Canonical SPDI:: NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:157097250:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.157097263_157097272del, NC_000005.10:g.157097264_157097272del, NC_000005.10:g.157097266_157097272del, NC_000005.10:g.157097268_157097272del, NC_000005.10:g.157097269_157097272del, NC_000005.10:g.157097270_157097272del, NC_000005.10:g.157097271_157097272del, NC_000005.10:g.157097272del, NC_000005.10:g.157097272dup, NC_000005.10:g.157097271_157097272dup, NC_000005.10:g.157097270_157097272dup, NC_000005.10:g.157097267_157097272dup, NC_000005.9:g.156524274_156524283del, NC_000005.9:g.156524275_156524283del, NC_000005.9:g.156524277_156524283del, NC_000005.9:g.156524279_156524283del, NC_000005.9:g.156524280_156524283del, NC_000005.9:g.156524281_156524283del, NC_000005.9:g.156524282_156524283del, NC_000005.9:g.156524283del, NC_000005.9:g.156524283dup, NC_000005.9:g.156524282_156524283dup, NC_000005.9:g.156524281_156524283dup, NC_000005.9:g.156524278_156524283dup, NG_030444.1:g.16978_16987del, NG_030444.1:g.16979_16987del, NG_030444.1:g.16981_16987del, NG_030444.1:g.16983_16987del, NG_030444.1:g.16984_16987del, NG_030444.1:g.16985_16987del, NG_030444.1:g.16986_16987del, NG_030444.1:g.16987del, NG_030444.1:g.16987dup, NG_030444.1:g.16986_16987dup, NG_030444.1:g.16985_16987dup, NG_030444.1:g.16982_16987dup

Select item 148994114013.

rs1489941140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:157092146 (GRCh38)
5:156519157 (GRCh37)
Canonical SPDI:: NC_000005.10:157092145:A:G,NC_000005.10:157092145:A:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000024/3 (GnomAD)
A=0.45/9 (SGDP_PRJ)
HGVS:: NC_000005.10:g.157092146A>G, NC_000005.10:g.157092146A>T, NC_000005.9:g.156519157A>G, NC_000005.9:g.156519157A>T, NG_030444.1:g.22092T>C, NG_030444.1:g.22092T>A

Select item 148982746914.

rs1489827469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157094066 (GRCh38)
5:156521077 (GRCh37)
Canonical SPDI:: NC_000005.10:157094065:G:A
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157094066G>A, NC_000005.9:g.156521077G>A, NG_030444.1:g.20172C>T

Select item 148949269315.

rs1489492693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157089898 (GRCh38)
5:156516909 (GRCh37)
Canonical SPDI:: NC_000005.10:157089897:T:C
Gene:: HAVCR2 (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.157089898T>C, NC_000005.9:g.156516909T>C, NG_030444.1:g.24340A>G

Select item 148940077516.

rs1489400775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:157087131 (GRCh38)
5:156514142 (GRCh37)
Canonical SPDI:: NC_000005.10:157087130:G:A,NC_000005.10:157087130:G:T
Gene:: HAVCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.157087131G>A, NC_000005.10:g.157087131G>T, NC_000005.9:g.156514142G>A, NC_000005.9:g.156514142G>T, NG_030444.1:g.27107C>T, NG_030444.1:g.27107C>A, NM_032782.5:c.877C>T, NM_032782.5:c.877C>A, NM_032782.4:c.877C>T, NM_032782.4:c.877C>A, NP_116171.3:p.Pro293Ser, NP_116171.3:p.Pro293Thr

Select item 148935625317.

rs1489356253 has merged into rs386405404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:157096243 (GRCh38)
5:156523254 (GRCh37)
Canonical SPDI:: NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157096229:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.157096243_157096251del, NC_000005.10:g.157096244_157096251del, NC_000005.10:g.157096245_157096251del, NC_000005.10:g.157096246_157096251del, NC_000005.10:g.157096250_157096251del, NC_000005.10:g.157096251del, NC_000005.10:g.157096251dup, NC_000005.10:g.157096250_157096251dup, NC_000005.10:g.157096249_157096251dup, NC_000005.10:g.157096248_157096251dup, NC_000005.10:g.157096245_157096251dup, NC_000005.10:g.157096234_157096251dup, NC_000005.10:g.157096251_157096252insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.156523254_156523262del, NC_000005.9:g.156523255_156523262del, NC_000005.9:g.156523256_156523262del, NC_000005.9:g.156523257_156523262del, NC_000005.9:g.156523261_156523262del, NC_000005.9:g.156523262del, NC_000005.9:g.156523262dup, NC_000005.9:g.156523261_156523262dup, NC_000005.9:g.156523260_156523262dup, NC_000005.9:g.156523259_156523262dup, NC_000005.9:g.156523256_156523262dup, NC_000005.9:g.156523245_156523262dup, NC_000005.9:g.156523262_156523263insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030444.1:g.18000_18008del, NG_030444.1:g.18001_18008del, NG_030444.1:g.18002_18008del, NG_030444.1:g.18003_18008del, NG_030444.1:g.18007_18008del, NG_030444.1:g.18008del, NG_030444.1:g.18008dup, NG_030444.1:g.18007_18008dup, NG_030444.1:g.18006_18008dup, NG_030444.1:g.18005_18008dup, NG_030444.1:g.18002_18008dup, NG_030444.1:g.17991_18008dup, NG_030444.1:g.18008_18009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148927304118.

rs1489273041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157096348 (GRCh38)
5:156523359 (GRCh37)
Canonical SPDI:: NC_000005.10:157096347:A:G
Gene:: HAVCR2 (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.157096348A>G, NC_000005.9:g.156523359A>G, NG_030444.1:g.17890T>C

Select item 148898022619.

rs1488980226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:157099711 (GRCh38)
5:156526722 (GRCh37)
Canonical SPDI:: NC_000005.10:157099710:T:G
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_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.157099711T>G, NC_000005.9:g.156526722T>G, NG_030444.1:g.14527A>C

Select item 148887052220.

rs1488870522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157092860 (GRCh38)
5:156519871 (GRCh37)
Canonical SPDI:: NC_000005.10:157092859:G:A
Gene:: HAVCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.157092860G>A, NC_000005.9:g.156519871G>A, NG_030444.1:g.21378C>T

<< First< Prev

Page of 294

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5878

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity