SNP Links for Gene (Select 100874374) - SNP

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Select item 14911725091.

rs1491172509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAAAGTTTCTTGGAATGGAATGGAAT,GGAAT,GGAATAGAATAGAATGGAAT,GGAATAGAATGGAAT,GGAATGGAAT,GGAATGGAATGGAAT,GGAATGGAATGGAATAGAATGGAAT,GGAATGGAATGGAATGGAAT,GGAATGGAATGGAATGGAATGGAAT,GGAATGGAATGGAATGGAATGGAATGGAAT,GGAATGGAATGGAATGGAATGGAATGGAATGGAAT,GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT [Show Flanks]
Chromosome:: 4:105561469 (GRCh38)
4:106482627 (GRCh37)
Canonical SPDI:: NC_000004.12:105561469:GAAT:GAATGGAAAAGTTTCTTGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATAGAATAGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATAGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATAGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT,NC_000004.12:105561469:GAAT:GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.105561473_105561474insGGAAAAGTTTCTTGGAATGGAATGGAAT, NC_000004.12:g.105561473_105561474insGGAAT, NC_000004.12:g.105561473_105561474insGGAATAGAATAGAATGGAAT, NC_000004.12:g.105561473_105561474insGGAATAGAATGGAAT, NC_000004.12:g.105561473_105561474insGGAATGGAAT, NC_000004.12:g.105561474GGAAT[3], NC_000004.12:g.105561470_105561473GAATG[3]GAATAGAATGGAAT[1], NC_000004.12:g.105561474GGAAT[4], NC_000004.12:g.105561474GGAAT[5], NC_000004.12:g.105561474GGAAT[6], NC_000004.12:g.105561474GGAAT[7], NC_000004.12:g.105561474GGAAT[8], NC_000004.11:g.106482630_106482631insGGAAAAGTTTCTTGGAATGGAATGGAAT, NC_000004.11:g.106482630_106482631insGGAAT, NC_000004.11:g.106482630_106482631insGGAATAGAATAGAATGGAAT, NC_000004.11:g.106482630_106482631insGGAATAGAATGGAAT, NC_000004.11:g.106482630_106482631insGGAATGGAAT, NC_000004.11:g.106482631GGAAT[3], NC_000004.11:g.106482627_106482630GAATG[3]GAATAGAATGGAAT[1], NC_000004.11:g.106482631GGAAT[4], NC_000004.11:g.106482631GGAAT[5], NC_000004.11:g.106482631GGAAT[6], NC_000004.11:g.106482631GGAAT[7], NC_000004.11:g.106482631GGAAT[8]

Select item 14911026772.

rs1491102677 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:105561470 (GRCh38)
4:106482627 (GRCh37)
Canonical SPDI:: NC_000004.12:105561468:AGA:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.105561470_105561471del, NC_000004.11:g.106482627_106482628del

Select item 14908155613.

rs1490815561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:105567541 (GRCh38)
4:106488698 (GRCh37)
Canonical SPDI:: NC_000004.12:105567540:A:G
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.105567541A>G, NC_000004.11:g.106488698A>G

Select item 14904438414.

rs1490443841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:105560389 (GRCh38)
4:106481546 (GRCh37)
Canonical SPDI:: NC_000004.12:105560388:T:C
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.105560389T>C, NC_000004.11:g.106481546T>C

Select item 14904155305.

rs1490415530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:105561293 (GRCh38)
4:106482450 (GRCh37)
Canonical SPDI:: NC_000004.12:105561292:T:G
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.105561293T>G, NC_000004.11:g.106482450T>G

Select item 14903585046.

rs1490358504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:105570633 (GRCh38)
4:106491790 (GRCh37)
Canonical SPDI:: NC_000004.12:105570632:A:C
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.105570633A>C, NC_000004.11:g.106491790A>C

Select item 14902814387.

rs1490281438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:105559968 (GRCh38)
4:106481125 (GRCh37)
Canonical SPDI:: NC_000004.12:105559967:G:C
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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_000004.12:g.105559968G>C, NC_000004.11:g.106481125G>C

Select item 14902538718.

rs1490253871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:105566817 (GRCh38)
4:106487974 (GRCh37)
Canonical SPDI:: NC_000004.12:105566816:G:A,NC_000004.12:105566816:G:T
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (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_000004.12:g.105566817G>A, NC_000004.12:g.105566817G>T, NC_000004.11:g.106487974G>A, NC_000004.11:g.106487974G>T

Select item 14900454199.

rs1490045419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:105566037 (GRCh38)
4:106487194 (GRCh37)
Canonical SPDI:: NC_000004.12:105566036:C:G
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.105566037C>G, NC_000004.11:g.106487194C>G

Select item 149002341410.

rs1490023414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:105568329 (GRCh38)
4:106489486 (GRCh37)
Canonical SPDI:: NC_000004.12:105568328:G:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.105568329G>A, NC_000004.11:g.106489486G>A

Select item 148988245011.

rs1489882450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:105565546 (GRCh38)
4:106486703 (GRCh37)
Canonical SPDI:: NC_000004.12:105565545:A:G
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (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)
G=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.105565546A>G, NC_000004.11:g.106486703A>G

Select item 148975090612.

rs1489750906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:105568266 (GRCh38)
4:106489423 (GRCh37)
Canonical SPDI:: NC_000004.12:105568265:A:C
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.105568266A>C, NC_000004.11:g.106489423A>C

Select item 148956898013.

rs1489568980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:105565534 (GRCh38)
4:106486691 (GRCh37)
Canonical SPDI:: NC_000004.12:105565533:G:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.105565534G>A, NC_000004.11:g.106486691G>A

Select item 148952440914.

rs1489524409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:105559976 (GRCh38)
4:106481133 (GRCh37)
Canonical SPDI:: NC_000004.12:105559975:G:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000053/14 (TOPMED)
A=0.000071/10 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.105559976G>A, NC_000004.11:g.106481133G>A

Select item 148889095515.

rs1488890955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:105568856 (GRCh38)
4:106490013 (GRCh37)
Canonical SPDI:: NC_000004.12:105568855:T:C
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.105568856T>C, NC_000004.11:g.106490013T>C

Select item 148870713116.

rs1488707131 [Homo sapiens]

Variant type:: DEL
Alleles:: CAT>- [Show Flanks]
Chromosome:: 4:105568228 (GRCh38)
4:106489385 (GRCh37)
Canonical SPDI:: NC_000004.12:105568227:CAT:
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.105568228_105568230del, NC_000004.11:g.106489385_106489387del

Select item 148852016217.

rs1488520162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:105561565 (GRCh38)
4:106482722 (GRCh37)
Canonical SPDI:: NC_000004.12:105561564:G:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.105561565G>A, NC_000004.11:g.106482722G>A

Select item 148836906318.

rs1488369063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:105565107 (GRCh38)
4:106486264 (GRCh37)
Canonical SPDI:: NC_000004.12:105565106:C:A
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (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_000004.12:g.105565107C>A, NC_000004.11:g.106486264C>A

Select item 148809851319.

rs1488098513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:105563623 (GRCh38)
4:106484780 (GRCh37)
Canonical SPDI:: NC_000004.12:105563622:G:A,NC_000004.12:105563622:G:T
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.105563623G>A, NC_000004.12:g.105563623G>T, NC_000004.11:g.106484780G>A, NC_000004.11:g.106484780G>T

Select item 148735966520.

rs1487359665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:105567622 (GRCh38)
4:106488779 (GRCh37)
Canonical SPDI:: NC_000004.12:105567621:C:T
Gene:: ARHGEF38 (Varview), ARHGEF38-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.105567622C>T, NC_000004.11:g.106488779C>T

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