SNP Links for Gene (Select 553158) - SNP

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Select item 14915702621.

rs1491570262 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:44787052 (GRCh38)
22:45182932 (GRCh37)
Canonical SPDI:: NC_000022.11:44787050:AGA:A
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44787052_44787053del, NC_000022.10:g.45182932_45182933del, NG_046967.1:g.89855_89856del

Select item 14915618982.

rs1491561898 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTT [Show Flanks]
Chromosome:: 22:44792830 (GRCh38)
22:45188711 (GRCh37)
Canonical SPDI:: NC_000022.11:44792830:TTTTTT:TTTTTTGTTTTTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.44792831_44792836T[6]GTTTTTT[1], NC_000022.10:g.45188711_45188716T[6]GTTTTTT[1], NG_046967.1:g.95634_95639T[6]GTTTTTT[1]

Select item 14915476203.

rs1491547620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACATACTACAC [Show Flanks]
Chromosome:: 22:44732845 (GRCh38)
22:45128726 (GRCh37)
Canonical SPDI:: NC_000022.11:44732845:ACAC:ACACGCACATACTACAC
Gene:: PRR5 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACGCACATACTACAC=0./0 (ALFA)
ACACGCACATACT=0.00008/1 (GnomAD)
ACACGCACATACT=0.00021/4 (TOMMO)
HGVS:: NC_000022.11:g.44732846_44732849AC[2]GCACATACTACAC[1], NC_000022.10:g.45128726_45128729AC[2]GCACATACTACAC[1], NG_029235.2:g.69300_69303AC[2]GCACATACTACAC[1], NG_046967.1:g.35649_35652AC[2]GCACATACTACAC[1]

Select item 14915420224.

rs1491542022 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 22:44830016 (GRCh38)
22:45225897 (GRCh37)
Canonical SPDI:: NC_000022.11:44830016:T:TTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44830017_44830018insTT, NC_000022.10:g.45225897_45225898insTT, NG_046967.1:g.132820_132821insTT

Select item 14915308265.

rs1491530826 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 22:44762543 (GRCh38)
22:45158424 (GRCh37)
Canonical SPDI:: NC_000022.11:44762543:T:TCTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.44762544_44762545insCTT, NC_000022.10:g.45158424_45158425insCTT, NG_046967.1:g.65347_65348insCTT

Select item 14915294366.

rs1491529436 has merged into rs533794156 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:44833106 (GRCh38)
22:45228986 (GRCh37)
Canonical SPDI:: NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44833096:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.19409/972 (1000Genomes)
TTTTTTTTTT=0.23085/856 (TWINSUK)
TTTTTTTTTT=0.24494/944 (ALSPAC)
HGVS:: NC_000022.11:g.44833106_44833114del, NC_000022.11:g.44833107_44833114del, NC_000022.11:g.44833108_44833114del, NC_000022.11:g.44833109_44833114del, NC_000022.11:g.44833110_44833114del, NC_000022.11:g.44833112_44833114del, NC_000022.11:g.44833113_44833114del, NC_000022.11:g.44833114del, NC_000022.11:g.44833114dup, NC_000022.11:g.44833113_44833114dup, NC_000022.11:g.44833112_44833114dup, NC_000022.11:g.44833111_44833114dup, NC_000022.11:g.44833109_44833114dup, NC_000022.11:g.44833108_44833114dup, NC_000022.11:g.44833107_44833114dup, NC_000022.11:g.44833106_44833114dup, NC_000022.11:g.44833105_44833114dup, NC_000022.11:g.44833104_44833114dup, NC_000022.11:g.44833101_44833114dup, NC_000022.11:g.44833100_44833114dup, NC_000022.11:g.44833114_44833115insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.45228986_45228994del, NC_000022.10:g.45228987_45228994del, NC_000022.10:g.45228988_45228994del, NC_000022.10:g.45228989_45228994del, NC_000022.10:g.45228990_45228994del, NC_000022.10:g.45228992_45228994del, NC_000022.10:g.45228993_45228994del, NC_000022.10:g.45228994del, NC_000022.10:g.45228994dup, NC_000022.10:g.45228993_45228994dup, NC_000022.10:g.45228992_45228994dup, NC_000022.10:g.45228991_45228994dup, NC_000022.10:g.45228989_45228994dup, NC_000022.10:g.45228988_45228994dup, NC_000022.10:g.45228987_45228994dup, NC_000022.10:g.45228986_45228994dup, NC_000022.10:g.45228985_45228994dup, NC_000022.10:g.45228984_45228994dup, NC_000022.10:g.45228981_45228994dup, NC_000022.10:g.45228980_45228994dup, NC_000022.10:g.45228994_45228995insTTTTTTTTTTTTTTTTTTTTTTT, NG_046967.1:g.135909_135917del, NG_046967.1:g.135910_135917del, NG_046967.1:g.135911_135917del, NG_046967.1:g.135912_135917del, NG_046967.1:g.135913_135917del, NG_046967.1:g.135915_135917del, NG_046967.1:g.135916_135917del, NG_046967.1:g.135917del, NG_046967.1:g.135917dup, NG_046967.1:g.135916_135917dup, NG_046967.1:g.135915_135917dup, NG_046967.1:g.135914_135917dup, NG_046967.1:g.135912_135917dup, NG_046967.1:g.135911_135917dup, NG_046967.1:g.135910_135917dup, NG_046967.1:g.135909_135917dup, NG_046967.1:g.135908_135917dup, NG_046967.1:g.135907_135917dup, NG_046967.1:g.135904_135917dup, NG_046967.1:g.135903_135917dup, NG_046967.1:g.135917_135918insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915212037.

rs1491521203 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTA,TTG [Show Flanks]
Chromosome:: 22:44810259 (GRCh38)
22:45206140 (GRCh37)
Canonical SPDI:: NC_000022.11:44810259::TG,NC_000022.11:44810259::TTA,NC_000022.11:44810259::TTG
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
TG=0.00055/1 (Korea1K)
HGVS:: NC_000022.11:g.44810259_44810260insTG, NC_000022.11:g.44810259_44810260insTTA, NC_000022.11:g.44810259_44810260insTTG, NC_000022.10:g.45206139_45206140insTG, NC_000022.10:g.45206139_45206140insTTA, NC_000022.10:g.45206139_45206140insTTG, NG_046967.1:g.113062_113063insTG, NG_046967.1:g.113062_113063insTTA, NG_046967.1:g.113062_113063insTTG

Select item 14914866258.

rs1491486625 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:44835155 (GRCh38)
22:45231036 (GRCh37)
Canonical SPDI:: NC_000022.11:44835155:A:AA
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44835156dup, NC_000022.10:g.45231036dup, NG_046967.1:g.137959dup

Select item 14914835599.

rs1491483559 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 22:44858368 (GRCh38)
22:45254248 (GRCh37)
Canonical SPDI:: NC_000022.11:44858367:GG:
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.44858368_44858369del, NC_000022.10:g.45254248_45254249del, NG_046967.1:g.161171_161172del

Select item 149147805010.

rs1491478050 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTT,CTTT [Show Flanks]
Chromosome:: 22:44858370 (GRCh38)
22:45254251 (GRCh37)
Canonical SPDI:: NC_000022.11:44858370:TTT:TTTCCTTT,NC_000022.11:44858370:TTT:TTTCTTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.44858373_44858374insCCTTT, NC_000022.11:g.44858373_44858374insCTTT, NC_000022.10:g.45254253_45254254insCCTTT, NC_000022.10:g.45254253_45254254insCTTT, NG_046967.1:g.161176_161177insCCTTT, NG_046967.1:g.161176_161177insCTTT

Select item 149147425811.

rs1491474258 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG,AG [Show Flanks]
Chromosome:: 22:44806973 (GRCh38)
22:45202854 (GRCh37)
Canonical SPDI:: NC_000022.11:44806973::AAG,NC_000022.11:44806973::AG
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
AG=0.005194/721 (GnomAD)
HGVS:: NC_000022.11:g.44806973_44806974insAAG, NC_000022.11:g.44806973_44806974insAG, NC_000022.10:g.45202853_45202854insAAG, NC_000022.10:g.45202853_45202854insAG, NG_046967.1:g.109776_109777insAAG, NG_046967.1:g.109776_109777insAG

Select item 149147218712.

rs1491472187 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:44850963 (GRCh38)
22:45246843 (GRCh37)
Canonical SPDI:: NC_000022.11:44850962:CA:
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000022.11:g.44850963_44850964del, NC_000022.10:g.45246843_45246844del, NG_046967.1:g.153766_153767del

Select item 149147052613.

rs1491470526 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 22:44792828 (GRCh38)
22:45188708 (GRCh37)
Canonical SPDI:: NC_000022.11:44792827:GG:
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.2187/843 (ALSPAC)
-=0.2438/904 (TWINSUK)
HGVS:: NC_000022.11:g.44792828_44792829del, NC_000022.10:g.45188708_45188709del, NG_046967.1:g.95631_95632del

Select item 149146396714.

rs1491463967 has merged into rs66912386 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATATAT [Show Flanks]
Chromosome:: 22:44862613 (GRCh38)
22:45258493 (GRCh37)
Canonical SPDI:: NC_000022.11:44862611:TATAT:T,NC_000022.11:44862611:TATAT:TAT,NC_000022.11:44862611:TATAT:TATATATAT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.044834/486 (ALFA)
-=0.155/93 (NorthernSweden)
-=0.156419/580 (TWINSUK)
-=0.157239/606 (ALSPAC)
-=0.158847/650 (Estonian)
-=0.168847/44692 (TOPMED)
-=0.174549/2185 (GoESP)
-=0.17477/21914 (GnomAD)
-=0.190381/190 (GoNL)
-=0.219877/45125 (GnomAD_exomes)
-=0.238764/23884 (ExAC)
-=0.25/10 (GENOME_DK)
-=0.384385/1925 (1000Genomes)
-=0.385792/706 (Korea1K)
-=0.395625/6029 (TOMMO)
HGVS:: NC_000022.11:g.44862613_44862616del, NC_000022.11:g.44862613AT[1], NC_000022.11:g.44862613AT[4], NC_000022.10:g.45258493_45258496del, NC_000022.10:g.45258493AT[1], NC_000022.10:g.45258493AT[4], NG_046967.1:g.165416_165419del, NG_046967.1:g.165416AT[1], NG_046967.1:g.165416AT[4], NM_181334.6:c.*18_*21del, NM_181334.6:c.*18AT[1], NM_181334.6:c.*18AT[4], NM_181334.5:c.*18_*21del, NM_181334.5:c.*18AT[1], NM_181334.5:c.*18AT[4], NM_181334.4:c.*18_*21del, NM_181334.4:c.*18AT[1], NM_181334.4:c.*18AT[4], NM_181335.3:c.*18_*21del, NM_181335.3:c.*18AT[1], NM_181335.3:c.*18AT[4], NM_181335.2:c.*18_*21del, NM_181335.2:c.*18AT[1], NM_181335.2:c.*18AT[4], NM_001017526.2:c.*18_*21del, NM_001017526.2:c.*18AT[1], NM_001017526.2:c.*18AT[4], NM_001017526.1:c.*18_*21del, NM_001017526.1:c.*18AT[1], NM_001017526.1:c.*18AT[4], NM_001198726.2:c.*298_*301del, NM_001198726.2:c.*298AT[1], NM_001198726.2:c.*298AT[4], NM_001198726.1:c.*298_*301del, NM_001198726.1:c.*298AT[1], NM_001198726.1:c.*298AT[4]

Select item 149146215215.

rs1491462152 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:44852189 (GRCh38)
22:45248069 (GRCh37)
Canonical SPDI:: NC_000022.11:44852188:CA:
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000022.11:g.44852189_44852190del, NC_000022.10:g.45248069_45248070del, NG_046967.1:g.154992_154993del

Select item 149145965616.

rs1491459656 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:44806974 (GRCh38)
22:45202854 (GRCh37)
Canonical SPDI:: NC_000022.11:44806972:AGA:A
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
-=0.000072/10 (GnomAD)
HGVS:: NC_000022.11:g.44806974_44806975del, NC_000022.10:g.45202854_45202855del, NG_046967.1:g.109777_109778del

Select item 149145118817.

rs1491451188 has merged into rs911417203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 22:44792839 (GRCh38)
22:45188719 (GRCh37)
Canonical SPDI:: NC_000022.11:44792829:TTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:44792829:TTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:44792829:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:44792829:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:44792829:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.44792839_44792841del, NC_000022.11:g.44792840_44792841del, NC_000022.11:g.44792841del, NC_000022.11:g.44792841dup, NC_000022.11:g.44792840_44792841dup, NC_000022.10:g.45188719_45188721del, NC_000022.10:g.45188720_45188721del, NC_000022.10:g.45188721del, NC_000022.10:g.45188721dup, NC_000022.10:g.45188720_45188721dup, NG_046967.1:g.95642_95644del, NG_046967.1:g.95643_95644del, NG_046967.1:g.95644del, NG_046967.1:g.95644dup, NG_046967.1:g.95643_95644dup

Select item 149144351418.

rs1491443514 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:44708966 (GRCh38)
22:45104846 (GRCh37)
Canonical SPDI:: NC_000022.11:44708965:CA:
Gene:: PRR5 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.44708966_44708967del, NC_000022.10:g.45104846_45104847del, NG_029235.2:g.45420_45421del, NG_046967.1:g.11769_11770del

Select item 149144056119.

rs1491440561 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:44835231 (GRCh38)
22:45231111 (GRCh37)
Canonical SPDI:: NC_000022.11:44835230:CT:
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.44835231_44835232del, NC_000022.10:g.45231111_45231112del, NG_046967.1:g.138034_138035del

Select item 149143538820.

rs1491435388 has merged into rs571105538 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 22:44830022 (GRCh38)
22:45225902 (GRCh37)
Canonical SPDI:: NC_000022.11:44830015:CTCTCTCTCT:CTCTCT,NC_000022.11:44830015:CTCTCTCTCT:CTCTCTCT,NC_000022.11:44830015:CTCTCTCTCT:CTCTCTCTCTCT
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
CT=0.00055/1 (Korea1K)
CT=0.00485/81 (TOMMO)
HGVS:: NC_000022.11:g.44830016CT[3], NC_000022.11:g.44830016CT[4], NC_000022.11:g.44830016CT[6], NC_000022.10:g.45225896CT[3], NC_000022.10:g.45225896CT[4], NC_000022.10:g.45225896CT[6], NG_046967.1:g.132819CT[3], NG_046967.1:g.132819CT[4], NG_046967.1:g.132819CT[6]

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