SNP Links for Protein (Select 1034570408) - SNP

Select item 14900301871.

rs1490030187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:31908275 (GRCh38)
10:32197203 (GRCh37)
Canonical SPDI:: NC_000010.11:31908274:G:A
Gene:: ARHGAP12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31908275G>A, NC_000010.10:g.32197203G>A, NM_018287.7:c.581C>T, NM_018287.6:c.581C>T, XM_005252644.3:c.581C>T, XM_005252644.2:c.581C>T, XM_005252644.1:c.581C>T, XM_011519761.3:c.581C>T, XM_011519761.2:c.581C>T, XM_011519761.1:c.581C>T, XM_017016954.3:c.581C>T, XM_017016954.2:c.581C>T, XM_017016954.1:c.581C>T, NM_001270696.2:c.581C>T, NM_001270696.1:c.581C>T, NM_001270698.2:c.581C>T, NM_001270698.1:c.581C>T, NM_001270695.1:c.581C>T, NM_001270697.1:c.581C>T, XM_047426021.1:c.581C>T, NM_001270699.1:c.581C>T, NP_060757.4:p.Ser194Phe, XP_005252701.1:p.Ser194Phe, XP_011518063.1:p.Ser194Phe, XP_016872443.1:p.Ser194Phe, NP_001257625.1:p.Ser194Phe, NP_001257627.1:p.Ser194Phe, NP_001257624.1:p.Ser194Phe, NP_001257626.1:p.Ser194Phe, XP_047281977.1:p.Ser194Phe, NP_001257628.1:p.Ser194Phe

Select item 14871592992.

rs1487159299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:31820403 (GRCh38)
10:32109331 (GRCh37)
Canonical SPDI:: NC_000010.11:31820402:T:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.31820403T>C, NC_000010.10:g.32109331T>C, NM_018287.7:c.1616A>G, NM_018287.6:c.1616A>G, XM_005252644.3:c.1460A>G, XM_005252644.2:c.1460A>G, XM_005252644.1:c.1460A>G, XM_011519761.3:c.1394A>G, XM_011519761.2:c.1394A>G, XM_011519761.1:c.1394A>G, XM_017016954.3:c.1304A>G, XM_017016954.2:c.1304A>G, XM_017016954.1:c.1304A>G, NM_001270696.2:c.1526A>G, NM_001270696.1:c.1526A>G, NM_001270698.2:c.1385A>G, NM_001270698.1:c.1385A>G, NM_001270695.1:c.1601A>G, NM_001270697.1:c.1475A>G, XM_047426021.1:c.1379A>G, NM_001270699.1:c.1460A>G, NP_060757.4:p.Lys539Arg, XP_005252701.1:p.Lys487Arg, XP_011518063.1:p.Lys465Arg, XP_016872443.1:p.Lys435Arg, NP_001257625.1:p.Lys509Arg, NP_001257627.1:p.Lys462Arg, NP_001257624.1:p.Lys534Arg, NP_001257626.1:p.Lys492Arg, XP_047281977.1:p.Lys460Arg, NP_001257628.1:p.Lys487Arg

Select item 14871063883.

rs1487106388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:31908196 (GRCh38)
10:32197124 (GRCh37)
Canonical SPDI:: NC_000010.11:31908195:G:A
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.31908196G>A, NC_000010.10:g.32197124G>A, NM_018287.7:c.660C>T, NM_018287.6:c.660C>T, XM_005252644.3:c.660C>T, XM_005252644.2:c.660C>T, XM_005252644.1:c.660C>T, XM_011519761.3:c.660C>T, XM_011519761.2:c.660C>T, XM_011519761.1:c.660C>T, XM_017016954.3:c.660C>T, XM_017016954.2:c.660C>T, XM_017016954.1:c.660C>T, NM_001270696.2:c.660C>T, NM_001270696.1:c.660C>T, NM_001270698.2:c.660C>T, NM_001270698.1:c.660C>T, NM_001270695.1:c.660C>T, NM_001270697.1:c.660C>T, XM_047426021.1:c.660C>T, NM_001270699.1:c.660C>T

Select item 14856739384.

rs1485673938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:31908497 (GRCh38)
10:32197425 (GRCh37)
Canonical SPDI:: NC_000010.11:31908496:G:A,NC_000010.11:31908496:G:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.31908497G>A, NC_000010.11:g.31908497G>C, NC_000010.10:g.32197425G>A, NC_000010.10:g.32197425G>C, NM_018287.7:c.359C>T, NM_018287.7:c.359C>G, NM_018287.6:c.359C>T, NM_018287.6:c.359C>G, XM_005252644.3:c.359C>T, XM_005252644.3:c.359C>G, XM_005252644.2:c.359C>T, XM_005252644.2:c.359C>G, XM_005252644.1:c.359C>T, XM_005252644.1:c.359C>G, XM_011519761.3:c.359C>T, XM_011519761.3:c.359C>G, XM_011519761.2:c.359C>T, XM_011519761.2:c.359C>G, XM_011519761.1:c.359C>T, XM_011519761.1:c.359C>G, XM_017016954.3:c.359C>T, XM_017016954.3:c.359C>G, XM_017016954.2:c.359C>T, XM_017016954.2:c.359C>G, XM_017016954.1:c.359C>T, XM_017016954.1:c.359C>G, NM_001270696.2:c.359C>T, NM_001270696.2:c.359C>G, NM_001270696.1:c.359C>T, NM_001270696.1:c.359C>G, NM_001270698.2:c.359C>T, NM_001270698.2:c.359C>G, NM_001270698.1:c.359C>T, NM_001270698.1:c.359C>G, NM_001270695.1:c.359C>T, NM_001270695.1:c.359C>G, NM_001270697.1:c.359C>T, NM_001270697.1:c.359C>G, XM_047426021.1:c.359C>T, XM_047426021.1:c.359C>G, NM_001270699.1:c.359C>T, NM_001270699.1:c.359C>G, NP_060757.4:p.Ser120Leu, NP_060757.4:p.Ser120Trp, XP_005252701.1:p.Ser120Leu, XP_005252701.1:p.Ser120Trp, XP_011518063.1:p.Ser120Leu, XP_011518063.1:p.Ser120Trp, XP_016872443.1:p.Ser120Leu, XP_016872443.1:p.Ser120Trp, NP_001257625.1:p.Ser120Leu, NP_001257625.1:p.Ser120Trp, NP_001257627.1:p.Ser120Leu, NP_001257627.1:p.Ser120Trp, NP_001257624.1:p.Ser120Leu, NP_001257624.1:p.Ser120Trp, NP_001257626.1:p.Ser120Leu, NP_001257626.1:p.Ser120Trp, XP_047281977.1:p.Ser120Leu, XP_047281977.1:p.Ser120Trp, NP_001257628.1:p.Ser120Leu, NP_001257628.1:p.Ser120Trp

Select item 14853845005.

rs1485384500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:31861594 (GRCh38)
10:32150522 (GRCh37)
Canonical SPDI:: NC_000010.11:31861593:T:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.31861594T>C, NC_000010.10:g.32150522T>C, NM_018287.7:c.749A>G, NM_018287.6:c.749A>G, XM_005252644.3:c.749A>G, XM_005252644.2:c.749A>G, XM_005252644.1:c.749A>G, XM_011519761.3:c.749A>G, XM_011519761.2:c.749A>G, XM_011519761.1:c.749A>G, XM_017016954.3:c.749A>G, XM_017016954.2:c.749A>G, XM_017016954.1:c.749A>G, NM_001270696.2:c.749A>G, NM_001270696.1:c.749A>G, NM_001270698.2:c.749A>G, NM_001270698.1:c.749A>G, NM_001270695.1:c.749A>G, NM_001270697.1:c.749A>G, XM_047426021.1:c.749A>G, NM_001270699.1:c.749A>G, NP_060757.4:p.Lys250Arg, XP_005252701.1:p.Lys250Arg, XP_011518063.1:p.Lys250Arg, XP_016872443.1:p.Lys250Arg, NP_001257625.1:p.Lys250Arg, NP_001257627.1:p.Lys250Arg, NP_001257624.1:p.Lys250Arg, NP_001257626.1:p.Lys250Arg, XP_047281977.1:p.Lys250Arg, NP_001257628.1:p.Lys250Arg

Select item 14852508676.

rs1485250867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:31809288 (GRCh38)
10:32098216 (GRCh37)
Canonical SPDI:: NC_000010.11:31809287:T:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.31809288T>C, NC_000010.10:g.32098216T>C, NM_018287.7:c.2070A>G, NM_018287.6:c.2070A>G, XM_005252644.3:c.1914A>G, XM_005252644.2:c.1914A>G, XM_005252644.1:c.1914A>G, XM_011519761.3:c.1848A>G, XM_011519761.2:c.1848A>G, XM_011519761.1:c.1848A>G, XM_017016954.3:c.1758A>G, XM_017016954.2:c.1758A>G, XM_017016954.1:c.1758A>G, NM_001270696.2:c.1980A>G, NM_001270696.1:c.1980A>G, NM_001270698.2:c.1839A>G, NM_001270698.1:c.1839A>G, NM_001270695.1:c.2055A>G, NM_001270697.1:c.1929A>G, XM_047426021.1:c.1833A>G, NM_001270699.1:c.1914A>G, NP_060757.4:p.Ile690Met, XP_005252701.1:p.Ile638Met, XP_011518063.1:p.Ile616Met, XP_016872443.1:p.Ile586Met, NP_001257625.1:p.Ile660Met, NP_001257627.1:p.Ile613Met, NP_001257624.1:p.Ile685Met, NP_001257626.1:p.Ile643Met, XP_047281977.1:p.Ile611Met, NP_001257628.1:p.Ile638Met

Select item 14840620867.

rs1484062086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:31861488 (GRCh38)
10:32150416 (GRCh37)
Canonical SPDI:: NC_000010.11:31861487:G:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31861488G>C, NC_000010.10:g.32150416G>C, NM_018287.7:c.855C>G, NM_018287.6:c.855C>G, XM_005252644.3:c.855C>G, XM_005252644.2:c.855C>G, XM_005252644.1:c.855C>G, XM_011519761.3:c.855C>G, XM_011519761.2:c.855C>G, XM_011519761.1:c.855C>G, XM_017016954.3:c.855C>G, XM_017016954.2:c.855C>G, XM_017016954.1:c.855C>G, NM_001270696.2:c.855C>G, NM_001270696.1:c.855C>G, NM_001270698.2:c.855C>G, NM_001270698.1:c.855C>G, NM_001270695.1:c.855C>G, NM_001270697.1:c.855C>G, XM_047426021.1:c.855C>G, NM_001270699.1:c.855C>G, NP_060757.4:p.Asn285Lys, XP_005252701.1:p.Asn285Lys, XP_011518063.1:p.Asn285Lys, XP_016872443.1:p.Asn285Lys, NP_001257625.1:p.Asn285Lys, NP_001257627.1:p.Asn285Lys, NP_001257624.1:p.Asn285Lys, NP_001257626.1:p.Asn285Lys, XP_047281977.1:p.Asn285Lys, NP_001257628.1:p.Asn285Lys

Select item 14826081978.

rs1482608197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:31807756 (GRCh38)
10:32096684 (GRCh37)
Canonical SPDI:: NC_000010.11:31807755:G:A
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.31807756G>A, NC_000010.10:g.32096684G>A, NM_018287.7:c.2443C>T, NM_018287.6:c.2443C>T, XM_005252644.3:c.2287C>T, XM_005252644.2:c.2287C>T, XM_005252644.1:c.2287C>T, XM_011519761.3:c.2221C>T, XM_011519761.2:c.2221C>T, XM_011519761.1:c.2221C>T, XM_017016954.3:c.2131C>T, XM_017016954.2:c.2131C>T, XM_017016954.1:c.2131C>T, NM_001270696.2:c.2353C>T, NM_001270696.1:c.2353C>T, NM_001270698.2:c.2212C>T, NM_001270698.1:c.2212C>T, NM_001270695.1:c.2428C>T, NM_001270697.1:c.2302C>T, XM_047426021.1:c.2206C>T, NM_001270699.1:c.2287C>T, NP_060757.4:p.Pro815Ser, XP_005252701.1:p.Pro763Ser, XP_011518063.1:p.Pro741Ser, XP_016872443.1:p.Pro711Ser, NP_001257625.1:p.Pro785Ser, NP_001257627.1:p.Pro738Ser, NP_001257624.1:p.Pro810Ser, NP_001257626.1:p.Pro768Ser, XP_047281977.1:p.Pro736Ser, NP_001257628.1:p.Pro763Ser

Select item 14825182899.

rs1482518289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:31908419 (GRCh38)
10:32197347 (GRCh37)
Canonical SPDI:: NC_000010.11:31908418:A:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.31908419A>C, NC_000010.10:g.32197347A>C, NM_018287.7:c.437T>G, NM_018287.6:c.437T>G, XM_005252644.3:c.437T>G, XM_005252644.2:c.437T>G, XM_005252644.1:c.437T>G, XM_011519761.3:c.437T>G, XM_011519761.2:c.437T>G, XM_011519761.1:c.437T>G, XM_017016954.3:c.437T>G, XM_017016954.2:c.437T>G, XM_017016954.1:c.437T>G, NM_001270696.2:c.437T>G, NM_001270696.1:c.437T>G, NM_001270698.2:c.437T>G, NM_001270698.1:c.437T>G, NM_001270695.1:c.437T>G, NM_001270697.1:c.437T>G, XM_047426021.1:c.437T>G, NM_001270699.1:c.437T>G, NP_060757.4:p.Val146Gly, XP_005252701.1:p.Val146Gly, XP_011518063.1:p.Val146Gly, XP_016872443.1:p.Val146Gly, NP_001257625.1:p.Val146Gly, NP_001257627.1:p.Val146Gly, NP_001257624.1:p.Val146Gly, NP_001257626.1:p.Val146Gly, XP_047281977.1:p.Val146Gly, NP_001257628.1:p.Val146Gly

Select item 148226903210.

rs1482269032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:31812707 (GRCh38)
10:32101635 (GRCh37)
Canonical SPDI:: NC_000010.11:31812706:C:T
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31812707C>T, NC_000010.10:g.32101635C>T, NM_018287.7:c.1951G>A, NM_018287.6:c.1951G>A, XM_005252644.3:c.1795G>A, XM_005252644.2:c.1795G>A, XM_005252644.1:c.1795G>A, XM_011519761.3:c.1729G>A, XM_011519761.2:c.1729G>A, XM_011519761.1:c.1729G>A, XM_017016954.3:c.1639G>A, XM_017016954.2:c.1639G>A, XM_017016954.1:c.1639G>A, NM_001270696.2:c.1861G>A, NM_001270696.1:c.1861G>A, NM_001270698.2:c.1720G>A, NM_001270698.1:c.1720G>A, NM_001270695.1:c.1936G>A, NM_001270697.1:c.1810G>A, XM_047426021.1:c.1714G>A, NM_001270699.1:c.1795G>A, NP_060757.4:p.Asp651Asn, XP_005252701.1:p.Asp599Asn, XP_011518063.1:p.Asp577Asn, XP_016872443.1:p.Asp547Asn, NP_001257625.1:p.Asp621Asn, NP_001257627.1:p.Asp574Asn, NP_001257624.1:p.Asp646Asn, NP_001257626.1:p.Asp604Asn, XP_047281977.1:p.Asp572Asn, NP_001257628.1:p.Asp599Asn

Select item 148196628111.

rs1481966281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:31814321 (GRCh38)
10:32103249 (GRCh37)
Canonical SPDI:: NC_000010.11:31814320:T:G
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.31814321T>G, NC_000010.10:g.32103249T>G, NM_018287.7:c.1772A>C, NM_018287.6:c.1772A>C, XM_005252644.3:c.1616A>C, XM_005252644.2:c.1616A>C, XM_005252644.1:c.1616A>C, XM_011519761.3:c.1550A>C, XM_011519761.2:c.1550A>C, XM_011519761.1:c.1550A>C, XM_017016954.3:c.1460A>C, XM_017016954.2:c.1460A>C, XM_017016954.1:c.1460A>C, NM_001270696.2:c.1682A>C, NM_001270696.1:c.1682A>C, NM_001270698.2:c.1541A>C, NM_001270698.1:c.1541A>C, NM_001270695.1:c.1757A>C, NM_001270697.1:c.1631A>C, XM_047426021.1:c.1535A>C, NM_001270699.1:c.1616A>C, NP_060757.4:p.Asp591Ala, XP_005252701.1:p.Asp539Ala, XP_011518063.1:p.Asp517Ala, XP_016872443.1:p.Asp487Ala, NP_001257625.1:p.Asp561Ala, NP_001257627.1:p.Asp514Ala, NP_001257624.1:p.Asp586Ala, NP_001257626.1:p.Asp544Ala, XP_047281977.1:p.Asp512Ala, NP_001257628.1:p.Asp539Ala

Select item 147822508012.

rs1478225080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:31810715 (GRCh38)
10:32099643 (GRCh37)
Canonical SPDI:: NC_000010.11:31810714:A:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.31810715A>C, NC_000010.10:g.32099643A>C, NM_018287.7:c.1984T>G, NM_018287.6:c.1984T>G, XM_005252644.3:c.1828T>G, XM_005252644.2:c.1828T>G, XM_005252644.1:c.1828T>G, XM_011519761.3:c.1762T>G, XM_011519761.2:c.1762T>G, XM_011519761.1:c.1762T>G, XM_017016954.3:c.1672T>G, XM_017016954.2:c.1672T>G, XM_017016954.1:c.1672T>G, NM_001270696.2:c.1894T>G, NM_001270696.1:c.1894T>G, NM_001270698.2:c.1753T>G, NM_001270698.1:c.1753T>G, NM_001270695.1:c.1969T>G, NM_001270697.1:c.1843T>G, XM_047426021.1:c.1747T>G, NM_001270699.1:c.1828T>G, NP_060757.4:p.Cys662Gly, XP_005252701.1:p.Cys610Gly, XP_011518063.1:p.Cys588Gly, XP_016872443.1:p.Cys558Gly, NP_001257625.1:p.Cys632Gly, NP_001257627.1:p.Cys585Gly, NP_001257624.1:p.Cys657Gly, NP_001257626.1:p.Cys615Gly, XP_047281977.1:p.Cys583Gly, NP_001257628.1:p.Cys610Gly

Select item 147711866613.

rs1477118666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:31908802 (GRCh38)
10:32197730 (GRCh37)
Canonical SPDI:: NC_000010.11:31908801:C:T
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31908802C>T, NC_000010.10:g.32197730C>T, NM_018287.7:c.54G>A, NM_018287.6:c.54G>A, XM_005252644.3:c.54G>A, XM_005252644.2:c.54G>A, XM_005252644.1:c.54G>A, XM_011519761.3:c.54G>A, XM_011519761.2:c.54G>A, XM_011519761.1:c.54G>A, XM_017016954.3:c.54G>A, XM_017016954.2:c.54G>A, XM_017016954.1:c.54G>A, NM_001270696.2:c.54G>A, NM_001270696.1:c.54G>A, NM_001270698.2:c.54G>A, NM_001270698.1:c.54G>A, NM_001270695.1:c.54G>A, NM_001270697.1:c.54G>A, XM_047426021.1:c.54G>A, NM_001270699.1:c.54G>A

Select item 147619888314.

rs1476198883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:31861623 (GRCh38)
10:32150551 (GRCh37)
Canonical SPDI:: NC_000010.11:31861622:A:G
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31861623A>G, NC_000010.10:g.32150551A>G, NM_018287.7:c.720T>C, NM_018287.6:c.720T>C, XM_005252644.3:c.720T>C, XM_005252644.2:c.720T>C, XM_005252644.1:c.720T>C, XM_011519761.3:c.720T>C, XM_011519761.2:c.720T>C, XM_011519761.1:c.720T>C, XM_017016954.3:c.720T>C, XM_017016954.2:c.720T>C, XM_017016954.1:c.720T>C, NM_001270696.2:c.720T>C, NM_001270696.1:c.720T>C, NM_001270698.2:c.720T>C, NM_001270698.1:c.720T>C, NM_001270695.1:c.720T>C, NM_001270697.1:c.720T>C, XM_047426021.1:c.720T>C, NM_001270699.1:c.720T>C

Select item 147608834315.

rs1476088343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:31908769 (GRCh38)
10:32197697 (GRCh37)
Canonical SPDI:: NC_000010.11:31908768:G:A
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31908769G>A, NC_000010.10:g.32197697G>A, NM_018287.7:c.87C>T, NM_018287.6:c.87C>T, XM_005252644.3:c.87C>T, XM_005252644.2:c.87C>T, XM_005252644.1:c.87C>T, XM_011519761.3:c.87C>T, XM_011519761.2:c.87C>T, XM_011519761.1:c.87C>T, XM_017016954.3:c.87C>T, XM_017016954.2:c.87C>T, XM_017016954.1:c.87C>T, NM_001270696.2:c.87C>T, NM_001270696.1:c.87C>T, NM_001270698.2:c.87C>T, NM_001270698.1:c.87C>T, NM_001270695.1:c.87C>T, NM_001270697.1:c.87C>T, XM_047426021.1:c.87C>T, NM_001270699.1:c.87C>T

Select item 147595141716.

rs1475951417 [Homo sapiens]

Variant type:: DEL
Alleles:: CCAGTAA>- [Show Flanks]
Chromosome:: 10:31809074 (GRCh38)
10:32098002 (GRCh37)
Canonical SPDI:: NC_000010.11:31809073:CCAGTAA:
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31809074_31809080del, NC_000010.10:g.32098002_32098008del, NM_018287.7:c.2177_2183del, NM_018287.6:c.2177_2183del, XM_005252644.3:c.2021_2027del, XM_005252644.2:c.2021_2027del, XM_005252644.1:c.2021_2027del, XM_011519761.3:c.1955_1961del, XM_011519761.2:c.1955_1961del, XM_011519761.1:c.1955_1961del, XM_017016954.3:c.1865_1871del, XM_017016954.2:c.1865_1871del, XM_017016954.1:c.1865_1871del, NM_001270696.2:c.2087_2093del, NM_001270696.1:c.2087_2093del, NM_001270698.2:c.1946_1952del, NM_001270698.1:c.1946_1952del, NM_001270695.1:c.2162_2168del, NM_001270697.1:c.2036_2042del, XM_047426021.1:c.1940_1946del, NM_001270699.1:c.2021_2027del, NP_060757.4:p.Ile726fs, XP_005252701.1:p.Ile674fs, XP_011518063.1:p.Ile652fs, XP_016872443.1:p.Ile622fs, NP_001257625.1:p.Ile696fs, NP_001257627.1:p.Ile649fs, NP_001257624.1:p.Ile721fs, NP_001257626.1:p.Ile679fs, XP_047281977.1:p.Ile647fs, NP_001257628.1:p.Ile674fs

Select item 147435487117.

rs1474354871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:31808668 (GRCh38)
10:32097596 (GRCh37)
Canonical SPDI:: NC_000010.11:31808667:G:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31808668G>C, NC_000010.10:g.32097596G>C, NM_018287.7:c.2347C>G, NM_018287.6:c.2347C>G, XM_005252644.3:c.2191C>G, XM_005252644.2:c.2191C>G, XM_005252644.1:c.2191C>G, XM_011519761.3:c.2125C>G, XM_011519761.2:c.2125C>G, XM_011519761.1:c.2125C>G, XM_017016954.3:c.2035C>G, XM_017016954.2:c.2035C>G, XM_017016954.1:c.2035C>G, NM_001270696.2:c.2257C>G, NM_001270696.1:c.2257C>G, NM_001270698.2:c.2116C>G, NM_001270698.1:c.2116C>G, NM_001270695.1:c.2332C>G, NM_001270697.1:c.2206C>G, XM_047426021.1:c.2110C>G, NM_001270699.1:c.2191C>G, NP_060757.4:p.Leu783Val, XP_005252701.1:p.Leu731Val, XP_011518063.1:p.Leu709Val, XP_016872443.1:p.Leu679Val, NP_001257625.1:p.Leu753Val, NP_001257627.1:p.Leu706Val, NP_001257624.1:p.Leu778Val, NP_001257626.1:p.Leu736Val, XP_047281977.1:p.Leu704Val, NP_001257628.1:p.Leu731Val

Select item 147431755818.

rs1474317558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:31908321 (GRCh38)
10:32197249 (GRCh37)
Canonical SPDI:: NC_000010.11:31908320:G:A
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.31908321G>A, NC_000010.10:g.32197249G>A, NM_018287.7:c.535C>T, NM_018287.6:c.535C>T, XM_005252644.3:c.535C>T, XM_005252644.2:c.535C>T, XM_005252644.1:c.535C>T, XM_011519761.3:c.535C>T, XM_011519761.2:c.535C>T, XM_011519761.1:c.535C>T, XM_017016954.3:c.535C>T, XM_017016954.2:c.535C>T, XM_017016954.1:c.535C>T, NM_001270696.2:c.535C>T, NM_001270696.1:c.535C>T, NM_001270698.2:c.535C>T, NM_001270698.1:c.535C>T, NM_001270695.1:c.535C>T, NM_001270697.1:c.535C>T, XM_047426021.1:c.535C>T, NM_001270699.1:c.535C>T, NP_060757.4:p.His179Tyr, XP_005252701.1:p.His179Tyr, XP_011518063.1:p.His179Tyr, XP_016872443.1:p.His179Tyr, NP_001257625.1:p.His179Tyr, NP_001257627.1:p.His179Tyr, NP_001257624.1:p.His179Tyr, NP_001257626.1:p.His179Tyr, XP_047281977.1:p.His179Tyr, NP_001257628.1:p.His179Tyr

Select item 147364995219.

rs1473649952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:31861404 (GRCh38)
10:32150332 (GRCh37)
Canonical SPDI:: NC_000010.11:31861403:C:T
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.31861404C>T, NC_000010.10:g.32150332C>T, NM_018287.7:c.939G>A, NM_018287.6:c.939G>A, XM_005252644.3:c.939G>A, XM_005252644.2:c.939G>A, XM_005252644.1:c.939G>A, XM_011519761.3:c.939G>A, XM_011519761.2:c.939G>A, XM_011519761.1:c.939G>A, XM_017016954.3:c.939G>A, XM_017016954.2:c.939G>A, XM_017016954.1:c.939G>A, NM_001270696.2:c.939G>A, NM_001270696.1:c.939G>A, NM_001270698.2:c.939G>A, NM_001270698.1:c.939G>A, NM_001270695.1:c.939G>A, NM_001270697.1:c.939G>A, XM_047426021.1:c.939G>A, NM_001270699.1:c.939G>A

Select item 147308983820.

rs1473089838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:31843496 (GRCh38)
10:32132424 (GRCh37)
Canonical SPDI:: NC_000010.11:31843495:T:C
Gene:: ARHGAP12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.31843496T>C, NC_000010.10:g.32132424T>C, NM_018287.7:c.1261A>G, NM_018287.6:c.1261A>G, XM_005252644.3:c.1120A>G, XM_005252644.2:c.1120A>G, XM_005252644.1:c.1120A>G, XM_011519761.3:c.1039A>G, XM_011519761.2:c.1039A>G, XM_011519761.1:c.1039A>G, XM_017016954.3:c.1039A>G, XM_017016954.2:c.1039A>G, XM_017016954.1:c.1039A>G, NM_001270696.2:c.1261A>G, NM_001270696.1:c.1261A>G, NM_001270698.2:c.1120A>G, NM_001270698.1:c.1120A>G, NM_001270695.1:c.1261A>G, NM_001270697.1:c.1120A>G, XM_047426021.1:c.1039A>G, NM_001270699.1:c.1120A>G, NP_060757.4:p.Arg421Gly, XP_005252701.1:p.Arg374Gly, XP_011518063.1:p.Arg347Gly, XP_016872443.1:p.Arg347Gly, NP_001257625.1:p.Arg421Gly, NP_001257627.1:p.Arg374Gly, NP_001257624.1:p.Arg421Gly, NP_001257626.1:p.Arg374Gly, XP_047281977.1:p.Arg347Gly, NP_001257628.1:p.Arg374Gly

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Result Filters

Clinical Significance

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Items: 1 to 20 of 668

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