SNP Links for Gene (Select 9138) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915445331.

rs1491544533 has merged into rs587720537 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTTTTTT [Show Flanks]
Chromosome:: 19:41885456 (GRCh38)
19:1 (GRCh37)
Canonical SPDI:: NC_000019.10:41885453:TTTT:TT,NC_000019.10:41885453:TTTT:TTT,NC_000019.10:41885453:TTTT:TTTTTTTTTT
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000599/3 (1000Genomes)
HGVS:: NC_000019.10:g.41885456_41885457del, NC_000019.10:g.41885457del, NC_000019.10:g.41885457_41885458insTTTTTT, NW_004775434.1:g.454495_454496del, NW_004775434.1:g.454496del, NW_004775434.1:g.454496_454497insTTTTTT

Select item 14913593842.

rs1491359384 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:41905455 (GRCh38)
19:42409607 (GRCh37)
Canonical SPDI:: NC_000019.10:41905450:TGTGTG:TGTG
Gene:: ARHGEF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.41905451TG[2], NW_004775434.1:g.474490TG[2], NC_000019.9:g.42409603TG[2]

Select item 14912215443.

rs1491221544 has merged into rs782405439 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGC>-,GTGTGCGTGTGC [Show Flanks]
Chromosome:: 19:41905458 (GRCh38)
19:42409610 (GRCh37)
Canonical SPDI:: NC_000019.10:41905451:GTGTGCGTGTGC:GTGTGC,NC_000019.10:41905451:GTGTGCGTGTGC:GTGTGCGTGTGCGTGTGC
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGTGCGTGTGC=0.000071/1 (ALFA)
-=0./0 (ALSPAC)
-=0.000038/10 (TOPMED)
-=0.000071/10 (GnomAD)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000019.10:g.41905452GTGTGC[1], NC_000019.10:g.41905452GTGTGC[3], NW_004775434.1:g.474491GTGTGC[1], NW_004775434.1:g.474491GTGTGC[3], NC_000019.9:g.42409604GTGTGC[1], NC_000019.9:g.42409604GTGTGC[3]

Select item 14908602004.

rs1490860200 has merged into rs1244989767 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 19:41894790 (GRCh38)
19:42398863 (GRCh37)
Canonical SPDI:: NC_000019.10:41894786:GGGGG:GGG,NC_000019.10:41894786:GGGGG:GGGG
Gene:: ARHGEF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.0001/10 (GnomAD)
HGVS:: NC_000019.10:g.41894790_41894791del, NC_000019.10:g.41894791del, NW_004775434.1:g.463829_463830del, NW_004775434.1:g.463830del, NC_000019.9:g.42398863_42398864del, NC_000019.9:g.42398864del

Select item 14908418815.

rs1490841881 has merged into rs1200271721 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTCATT>-,CATT,CATTCATTCATT [Show Flanks]
Chromosome:: 19:41907575 (GRCh38)
19:42411727 (GRCh37)
Canonical SPDI:: NC_000019.10:41907560:TTCATTCATTCATTCATTCATT:TTCATTCATTCATT,NC_000019.10:41907560:TTCATTCATTCATTCATTCATT:TTCATTCATTCATTCATT,NC_000019.10:41907560:TTCATTCATTCATTCATTCATT:TTCATTCATTCATTCATTCATTCATT
Gene:: ARHGEF1 (Varview), ERFL (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCATTCATTCATTCATT=0./0 (ALFA)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000019.10:g.41907563CATT[3], NC_000019.10:g.41907563CATT[4], NC_000019.10:g.41907563CATT[6], NW_004775434.1:g.476602CATT[3], NW_004775434.1:g.476602CATT[4], NW_004775434.1:g.476602CATT[6], NC_000019.9:g.42411715CATT[3], NC_000019.9:g.42411715CATT[4], NC_000019.9:g.42411715CATT[6], NM_001365103.1:c.*648TGAA[3], NM_001365103.1:c.*648TGAA[4], NM_001365103.1:c.*648TGAA[6]

Select item 14908269446.

rs1490826944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41887742 (GRCh38)
19:42391813 (GRCh37)
Canonical SPDI:: NC_000019.10:41887741:C:T
Gene:: ARHGEF1 (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.41887742C>T, NW_004775434.1:g.456781C>T, NC_000019.9:g.42391813C>T

Select item 14907776437.

rs1490777643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41901257 (GRCh38)
19:42405407 (GRCh37)
Canonical SPDI:: NC_000019.10:41901256:C:G
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41901257C>G, NW_004775434.1:g.470296C>G, NC_000019.9:g.42405407C>G

Select item 14907136998.

rs1490713699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41886693 (GRCh38)
19:42390764 (GRCh37)
Canonical SPDI:: NC_000019.10:41886692:A:G
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.41886693A>G, NW_004775434.1:g.455732A>G, NC_000019.9:g.42390764A>G

Select item 14903504999.

rs1490350499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41907876 (GRCh38)
19:42412028 (GRCh37)
Canonical SPDI:: NC_000019.10:41907875:C:T
Gene:: ARHGEF1 (Varview), ERFL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000019.10:g.41907876C>T, NW_004775434.1:g.476915C>T, NC_000019.9:g.42412028C>T, NM_001365103.2:c.*352G>A, NM_001365103.1:c.*352G>A

Select item 149004698910.

rs1490046989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41906153 (GRCh38)
19:42410305 (GRCh37)
Canonical SPDI:: NC_000019.10:41906152:A:C
Gene:: ARHGEF1 (Varview)
Functional Consequence:: genic_downstream_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=0.012022/22 (Korea1K)
HGVS:: NC_000019.10:g.41906153A>C, NW_004775434.1:g.475192A>C, NC_000019.9:g.42410305A>C

Select item 149000812211.

rs1490008122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41887316 (GRCh38)
19:42391387 (GRCh37)
Canonical SPDI:: NC_000019.10:41887315:A:G
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41887316A>G, NW_004775434.1:g.456355A>G, NC_000019.9:g.42391387A>G

Select item 148997687012.

rs1489976870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:41900004 (GRCh38)
19:42404153 (GRCh37)
Canonical SPDI:: NC_000019.10:41900003:A:G,NC_000019.10:41900003:A:T
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.41900004A>G, NC_000019.10:g.41900004A>T, NW_004775434.1:g.469043A>G, NW_004775434.1:g.469043A>T, NC_000019.9:g.42404153A>G, NC_000019.9:g.42404153A>T

Select item 148996164513.

rs1489961645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41900891 (GRCh38)
19:42405041 (GRCh37)
Canonical SPDI:: NC_000019.10:41900890:A:C
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000026/7 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000354/6 (TOMMO)
HGVS:: NC_000019.10:g.41900891A>C, NW_004775434.1:g.469930A>C, NC_000019.9:g.42405041A>C

Select item 148989572914.

rs1489895729 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:41886051 (GRCh38)
19:42390122 (GRCh37)
Canonical SPDI:: NC_000019.10:41886050:G:
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41886051del, NW_004775434.1:g.455090del, NC_000019.9:g.42390122del

Select item 148932340115.

rs1489323401 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:41903085 (GRCh38)
19:42407235 (GRCh37)
Canonical SPDI:: NC_000019.10:41903084:TTTTTTT:TTTTTT
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41903091del, NW_004775434.1:g.472130del, NC_000019.9:g.42407241del

Select item 148902757016.

rs1489027570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41893775 (GRCh38)
19:42397846 (GRCh37)
Canonical SPDI:: NC_000019.10:41893774:G:A
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00244/29 (ALFA)
A=0.00816/21 (KOREAN)
G=0.25/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.41893775G>A, NW_004775434.1:g.462814G>A, NC_000019.9:g.42397846G>A

Select item 148901829617.

rs1489018296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41895776 (GRCh38)
19:42399849 (GRCh37)
Canonical SPDI:: NC_000019.10:41895775:C:T
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41895776C>T, NW_004775434.1:g.464815C>T, NC_000019.9:g.42399849C>T

Select item 148896975018.

rs1488969750 has merged into rs11290898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:41881666 (GRCh38)
19:42385734 (GRCh37)
Canonical SPDI:: NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41881652:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CD79A (Varview), ARHGEF1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.41881666_41881674del, NC_000019.10:g.41881668_41881674del, NC_000019.10:g.41881669_41881674del, NC_000019.10:g.41881670_41881674del, NC_000019.10:g.41881671_41881674del, NC_000019.10:g.41881672_41881674del, NC_000019.10:g.41881673_41881674del, NC_000019.10:g.41881674del, NC_000019.10:g.41881674dup, NC_000019.10:g.41881673_41881674dup, NC_000019.10:g.41881672_41881674dup, NC_000019.10:g.41881671_41881674dup, NC_000019.10:g.41881670_41881674dup, NC_000019.10:g.41881669_41881674dup, NC_000019.10:g.41881668_41881674dup, NW_004775434.1:g.450705_450713del, NW_004775434.1:g.450707_450713del, NW_004775434.1:g.450708_450713del, NW_004775434.1:g.450709_450713del, NW_004775434.1:g.450710_450713del, NW_004775434.1:g.450711_450713del, NW_004775434.1:g.450712_450713del, NW_004775434.1:g.450713del, NW_004775434.1:g.450713dup, NW_004775434.1:g.450712_450713dup, NW_004775434.1:g.450711_450713dup, NW_004775434.1:g.450710_450713dup, NW_004775434.1:g.450709_450713dup, NW_004775434.1:g.450708_450713dup, NW_004775434.1:g.450707_450713dup, NG_009619.1:g.9546_9554del, NG_009619.1:g.9548_9554del, NG_009619.1:g.9549_9554del, NG_009619.1:g.9550_9554del, NG_009619.1:g.9551_9554del, NG_009619.1:g.9552_9554del, NG_009619.1:g.9553_9554del, NG_009619.1:g.9554del, NG_009619.1:g.9554dup, NG_009619.1:g.9553_9554dup, NG_009619.1:g.9552_9554dup, NG_009619.1:g.9551_9554dup, NG_009619.1:g.9550_9554dup, NG_009619.1:g.9549_9554dup, NG_009619.1:g.9548_9554dup, NC_000019.9:g.42385735_42385743del, NC_000019.9:g.42385737_42385743del, NC_000019.9:g.42385738_42385743del, NC_000019.9:g.42385739_42385743del, NC_000019.9:g.42385740_42385743del, NC_000019.9:g.42385741_42385743del, NC_000019.9:g.42385742_42385743del, NC_000019.9:g.42385743del, NC_000019.9:g.42385743dup, NC_000019.9:g.42385742_42385743dup, NC_000019.9:g.42385741_42385743dup, NC_000019.9:g.42385740_42385743dup, NC_000019.9:g.42385739_42385743dup, NC_000019.9:g.42385738_42385743dup, NC_000019.9:g.42385737_42385743dup

Select item 148893240619.

rs1488932406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41889202 (GRCh38)
19:42393273 (GRCh37)
Canonical SPDI:: NC_000019.10:41889201:G:A
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.0001/14 (GnomAD)
A=0.000155/41 (TOPMED)
HGVS:: NC_000019.10:g.41889202G>A, NW_004775434.1:g.458241G>A, NC_000019.9:g.42393273G>A

Select item 148883798920.

rs1488837989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41903161 (GRCh38)
19:42407311 (GRCh37)
Canonical SPDI:: NC_000019.10:41903160:A:G
Gene:: ARHGEF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41903161A>G, NW_004775434.1:g.472200A>G, NC_000019.9:g.42407311A>G

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

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