SNP Links for Gene (Select 100874226) - SNP

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Select item 14911134671.

rs1491113467 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:111147690 (GRCh38)
13:111800037 (GRCh37)
Canonical SPDI:: NC_000013.11:111147689:CT:
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.111147690_111147691del, NC_000013.10:g.111800037_111800038del

Select item 14910410112.

rs1491041011 has merged into rs11463808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:111147702 (GRCh38)
13:111800049 (GRCh37)
Canonical SPDI:: NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:111147690:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.111147702_111147715del, NC_000013.11:g.111147703_111147715del, NC_000013.11:g.111147704_111147715del, NC_000013.11:g.111147705_111147715del, NC_000013.11:g.111147706_111147715del, NC_000013.11:g.111147707_111147715del, NC_000013.11:g.111147708_111147715del, NC_000013.11:g.111147709_111147715del, NC_000013.11:g.111147710_111147715del, NC_000013.11:g.111147711_111147715del, NC_000013.11:g.111147712_111147715del, NC_000013.11:g.111147713_111147715del, NC_000013.11:g.111147714_111147715del, NC_000013.11:g.111147715del, NC_000013.11:g.111147715dup, NC_000013.11:g.111147714_111147715dup, NC_000013.11:g.111147713_111147715dup, NC_000013.11:g.111147712_111147715dup, NC_000013.11:g.111147711_111147715dup, NC_000013.11:g.111147710_111147715dup, NC_000013.11:g.111147709_111147715dup, NC_000013.11:g.111147708_111147715dup, NC_000013.11:g.111147707_111147715dup, NC_000013.11:g.111147706_111147715dup, NC_000013.11:g.111147705_111147715dup, NC_000013.11:g.111147698_111147715dup, NC_000013.11:g.111147715_111147716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.111800049_111800062del, NC_000013.10:g.111800050_111800062del, NC_000013.10:g.111800051_111800062del, NC_000013.10:g.111800052_111800062del, NC_000013.10:g.111800053_111800062del, NC_000013.10:g.111800054_111800062del, NC_000013.10:g.111800055_111800062del, NC_000013.10:g.111800056_111800062del, NC_000013.10:g.111800057_111800062del, NC_000013.10:g.111800058_111800062del, NC_000013.10:g.111800059_111800062del, NC_000013.10:g.111800060_111800062del, NC_000013.10:g.111800061_111800062del, NC_000013.10:g.111800062del, NC_000013.10:g.111800062dup, NC_000013.10:g.111800061_111800062dup, NC_000013.10:g.111800060_111800062dup, NC_000013.10:g.111800059_111800062dup, NC_000013.10:g.111800058_111800062dup, NC_000013.10:g.111800057_111800062dup, NC_000013.10:g.111800056_111800062dup, NC_000013.10:g.111800055_111800062dup, NC_000013.10:g.111800054_111800062dup, NC_000013.10:g.111800053_111800062dup, NC_000013.10:g.111800052_111800062dup, NC_000013.10:g.111800045_111800062dup, NC_000013.10:g.111800062_111800063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14896672263.

rs1489667226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:111149815 (GRCh38)
13:111802162 (GRCh37)
Canonical SPDI:: NC_000013.11:111149814:T:C
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.111149815T>C, NC_000013.10:g.111802162T>C

Select item 14892495014.

rs1489249501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:111150410 (GRCh38)
13:111802757 (GRCh37)
Canonical SPDI:: NC_000013.11:111150409:G:A
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000013.11:g.111150410G>A, NC_000013.10:g.111802757G>A, NR_120398.1:n.3168C>T

Select item 14889757145.

rs1488975714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:111149288 (GRCh38)
13:111801635 (GRCh37)
Canonical SPDI:: NC_000013.11:111149287:G:A,NC_000013.11:111149287:G:C
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.111149288G>A, NC_000013.11:g.111149288G>C, NC_000013.10:g.111801635G>A, NC_000013.10:g.111801635G>C

Select item 14888831866.

rs1488883186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:111144165 (GRCh38)
13:111796512 (GRCh37)
Canonical SPDI:: NC_000013.11:111144164:C:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.111144165C>T, NC_000013.10:g.111796512C>T

Select item 14867400367.

rs1486740036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:111146885 (GRCh38)
13:111799232 (GRCh37)
Canonical SPDI:: NC_000013.11:111146884:C:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.111146885C>T, NC_000013.10:g.111799232C>T

Select item 14858361238.

rs1485836123 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:111149706 (GRCh38)
13:111802053 (GRCh37)
Canonical SPDI:: NC_000013.11:111149705:T:
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.111149706del, NC_000013.10:g.111802053del

Select item 14857710959.

rs1485771095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:111146765 (GRCh38)
13:111799112 (GRCh37)
Canonical SPDI:: NC_000013.11:111146764:G:A
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.111146765G>A, NC_000013.10:g.111799112G>A

Select item 148560821210.

rs1485608212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:111148722 (GRCh38)
13:111801069 (GRCh37)
Canonical SPDI:: NC_000013.11:111148721:C:A
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.111148722C>A, NC_000013.10:g.111801069C>A

Select item 148442699511.

rs1484426995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:111146416 (GRCh38)
13:111798763 (GRCh37)
Canonical SPDI:: NC_000013.11:111146415:G:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.111146416G>T, NC_000013.10:g.111798763G>T

Select item 148291066212.

rs1482910662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:111145349 (GRCh38)
13:111797696 (GRCh37)
Canonical SPDI:: NC_000013.11:111145348:T:G
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.111145349T>G, NC_000013.10:g.111797696T>G

Select item 148152660913.

rs1481526609 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:111147047 (GRCh38)
13:111799395 (GRCh37)
Canonical SPDI:: NC_000013.11:111147047::C
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.111147047_111147048insC, NC_000013.10:g.111799394_111799395insC

Select item 148149638014.

rs1481496380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:111147904 (GRCh38)
13:111800251 (GRCh37)
Canonical SPDI:: NC_000013.11:111147903:A:G
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.111147904A>G, NC_000013.10:g.111800251A>G

Select item 148054744315.

rs1480547443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:111147543 (GRCh38)
13:111799890 (GRCh37)
Canonical SPDI:: NC_000013.11:111147542:C:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.111147543C>T, NC_000013.10:g.111799890C>T

Select item 148051960416.

rs1480519604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:111144185 (GRCh38)
13:111796532 (GRCh37)
Canonical SPDI:: NC_000013.11:111144184:T:G
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.111144185T>G, NC_000013.10:g.111796532T>G

Select item 148051679417.

rs1480516794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:111148422 (GRCh38)
13:111800769 (GRCh37)
Canonical SPDI:: NC_000013.11:111148421:C:G,NC_000013.11:111148421:C:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview), LOC101060553 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.111148422C>G, NC_000013.11:g.111148422C>T, NC_000013.10:g.111800769C>G, NC_000013.10:g.111800769C>T, NR_120398.1:n.3846G>C, NR_120398.1:n.3846G>A

Select item 148001963918.

rs1480019639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:111146082 (GRCh38)
13:111798429 (GRCh37)
Canonical SPDI:: NC_000013.11:111146081:G:T
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.111146082G>T, NC_000013.10:g.111798429G>T

Select item 147844458219.

rs1478444582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:111143920 (GRCh38)
13:111796267 (GRCh37)
Canonical SPDI:: NC_000013.11:111143919:T:A
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.111143920T>A, NC_000013.10:g.111796267T>A

Select item 147834919320.

rs1478349193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:111146467 (GRCh38)
13:111798814 (GRCh37)
Canonical SPDI:: NC_000013.11:111146466:A:G
Gene:: ARHGEF7 (Varview), ARHGEF7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.111146467A>G, NC_000013.10:g.111798814A>G

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