SNP Links for Protein (Select 1034656547) - SNP

Select item 14906040881.

rs1490604088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149860716 (GRCh38)
7:149557805 (GRCh37)
Canonical SPDI:: NC_000007.14:149860715:A:G
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.149860716A>G, NC_000007.13:g.149557805A>G, NG_051961.1:g.26751A>G, NM_001099220.3:c.1556A>G, NM_001099220.2:c.1556A>G, NM_001099220.1:c.1556A>G, XM_006716085.4:c.1598A>G, XM_006716085.3:c.1598A>G, XM_006716085.2:c.1598A>G, XM_006716085.1:c.1598A>G, XM_011516465.3:c.584A>G, XM_011516465.2:c.584A>G, XM_011516465.1:c.584A>G, XM_011516466.3:c.323A>G, XM_011516466.2:c.323A>G, XM_011516466.1:c.323A>G, XM_011516464.2:c.1577A>G, XM_011516464.1:c.1577A>G, XM_017012519.2:c.1535A>G, XM_017012519.1:c.1535A>G, XM_011516463.1:c.1598A>G, XM_024446866.1:c.1304A>G, NP_001092690.1:p.His519Arg, XP_006716148.1:p.His533Arg, XP_011514767.1:p.His195Arg, XP_011514768.1:p.His108Arg, XP_011514766.1:p.His526Arg, XP_016868008.1:p.His512Arg, XP_011514765.1:p.His533Arg, XP_024302634.1:p.His435Arg

Select item 14900207282.

rs1490020728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:149861369 (GRCh38)
7:149558458 (GRCh37)
Canonical SPDI:: NC_000007.14:149861368:T:C
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.149861369T>C, NC_000007.13:g.149558458T>C, NG_051961.1:g.27404T>C, NM_001099220.3:c.2209T>C, NM_001099220.2:c.2209T>C, NM_001099220.1:c.2209T>C, XM_006716085.4:c.2251T>C, XM_006716085.3:c.2251T>C, XM_006716085.2:c.2251T>C, XM_006716085.1:c.2251T>C, XM_011516465.3:c.1237T>C, XM_011516465.2:c.1237T>C, XM_011516465.1:c.1237T>C, XM_011516466.3:c.976T>C, XM_011516466.2:c.976T>C, XM_011516466.1:c.976T>C, XM_011516464.2:c.2230T>C, XM_011516464.1:c.2230T>C, XM_017012519.2:c.2188T>C, XM_017012519.1:c.2188T>C, XM_011516463.1:c.2251T>C, XM_024446866.1:c.1957T>C, NP_001092690.1:p.Cys737Arg, XP_006716148.1:p.Cys751Arg, XP_011514767.1:p.Cys413Arg, XP_011514768.1:p.Cys326Arg, XP_011514766.1:p.Cys744Arg, XP_016868008.1:p.Cys730Arg, XP_011514765.1:p.Cys751Arg, XP_024302634.1:p.Cys653Arg

Select item 14897583163.

rs1489758316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:149861259 (GRCh38)
7:149558348 (GRCh37)
Canonical SPDI:: NC_000007.14:149861258:C:T
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.149861259C>T, NC_000007.13:g.149558348C>T, NG_051961.1:g.27294C>T, NM_001099220.3:c.2099C>T, NM_001099220.2:c.2099C>T, NM_001099220.1:c.2099C>T, XM_006716085.4:c.2141C>T, XM_006716085.3:c.2141C>T, XM_006716085.2:c.2141C>T, XM_006716085.1:c.2141C>T, XM_011516465.3:c.1127C>T, XM_011516465.2:c.1127C>T, XM_011516465.1:c.1127C>T, XM_011516466.3:c.866C>T, XM_011516466.2:c.866C>T, XM_011516466.1:c.866C>T, XM_011516464.2:c.2120C>T, XM_011516464.1:c.2120C>T, XM_017012519.2:c.2078C>T, XM_017012519.1:c.2078C>T, XM_011516463.1:c.2141C>T, XM_024446866.1:c.1847C>T, NP_001092690.1:p.Ala700Val, XP_006716148.1:p.Ala714Val, XP_011514767.1:p.Ala376Val, XP_011514768.1:p.Ala289Val, XP_011514766.1:p.Ala707Val, XP_016868008.1:p.Ala693Val, XP_011514765.1:p.Ala714Val, XP_024302634.1:p.Ala616Val

Select item 14878311794.

rs1487831179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149848078 (GRCh38)
7:149545167 (GRCh37)
Canonical SPDI:: NC_000007.14:149848077:G:A
Gene:: ZNF862 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.149848078G>A, NC_000007.13:g.149545167G>A, NG_051961.1:g.14113G>A, NM_001099220.3:c.585G>A, NM_001099220.2:c.585G>A, NM_001099220.1:c.585G>A, XM_006716085.4:c.627G>A, XM_006716085.3:c.627G>A, XM_006716085.2:c.627G>A, XM_006716085.1:c.627G>A, XM_011516464.2:c.606G>A, XM_011516464.1:c.606G>A, XM_017012519.2:c.564G>A, XM_017012519.1:c.564G>A, XM_011516463.1:c.627G>A, XM_024446866.1:c.333G>A

Select item 14874643795.

rs1487464379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:149848005 (GRCh38)
7:149545094 (GRCh37)
Canonical SPDI:: NC_000007.14:149848004:G:T
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000007.14:g.149848005G>T, NC_000007.13:g.149545094G>T, NG_051961.1:g.14040G>T, NM_001099220.3:c.512G>T, NM_001099220.2:c.512G>T, NM_001099220.1:c.512G>T, XM_006716085.4:c.554G>T, XM_006716085.3:c.554G>T, XM_006716085.2:c.554G>T, XM_006716085.1:c.554G>T, XM_011516464.2:c.533G>T, XM_011516464.1:c.533G>T, XM_017012519.2:c.491G>T, XM_017012519.1:c.491G>T, XM_011516463.1:c.554G>T, XM_024446866.1:c.260G>T, NP_001092690.1:p.Arg171Met, XP_006716148.1:p.Arg185Met, XP_011514766.1:p.Arg178Met, XP_016868008.1:p.Arg164Met, XP_011514765.1:p.Arg185Met, XP_024302634.1:p.Arg87Met

Select item 14874526416.

rs1487452641 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 7:149862061 (GRCh38)
7:149559150 (GRCh37)
Canonical SPDI:: NC_000007.14:149862056:ATGATGA:ATGA
Gene:: ZNF862 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149862058TGA[1], NC_000007.13:g.149559147TGA[1], NG_051961.1:g.28093TGA[1], NM_001099220.3:c.2898TGA[1], NM_001099220.2:c.2898TGA[1], NM_001099220.1:c.2898TGA[1], XM_006716085.4:c.2940TGA[1], XM_006716085.3:c.2940TGA[1], XM_006716085.2:c.2940TGA[1], XM_006716085.1:c.2940TGA[1], XM_011516465.3:c.1926TGA[1], XM_011516465.2:c.1926TGA[1], XM_011516465.1:c.1926TGA[1], XM_011516466.3:c.1665TGA[1], XM_011516466.2:c.1665TGA[1], XM_011516466.1:c.1665TGA[1], XM_011516464.2:c.2919TGA[1], XM_011516464.1:c.2919TGA[1], XM_017012519.2:c.2877TGA[1], XM_017012519.1:c.2877TGA[1], XM_011516463.1:c.2940TGA[1], XM_024446866.1:c.2646TGA[1], NP_001092690.1:p.Asp968del, XP_006716148.1:p.Asp982del, XP_011514767.1:p.Asp644del, XP_011514768.1:p.Asp557del, XP_011514766.1:p.Asp975del, XP_016868008.1:p.Asp961del, XP_011514765.1:p.Asp982del, XP_024302634.1:p.Asp884del

Select item 14857918877.

rs1485791887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:149848074 (GRCh38)
7:149545163 (GRCh37)
Canonical SPDI:: NC_000007.14:149848073:C:T
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000223/1 (Estonian)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.149848074C>T, NC_000007.13:g.149545163C>T, NG_051961.1:g.14109C>T, NM_001099220.3:c.581C>T, NM_001099220.2:c.581C>T, NM_001099220.1:c.581C>T, XM_006716085.4:c.623C>T, XM_006716085.3:c.623C>T, XM_006716085.2:c.623C>T, XM_006716085.1:c.623C>T, XM_011516464.2:c.602C>T, XM_011516464.1:c.602C>T, XM_017012519.2:c.560C>T, XM_017012519.1:c.560C>T, XM_011516463.1:c.623C>T, XM_024446866.1:c.329C>T, NP_001092690.1:p.Ala194Val, XP_006716148.1:p.Ala208Val, XP_011514766.1:p.Ala201Val, XP_016868008.1:p.Ala187Val, XP_011514765.1:p.Ala208Val, XP_024302634.1:p.Ala110Val

Select item 14851098448.

rs1485109844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149861453 (GRCh38)
7:149558542 (GRCh37)
Canonical SPDI:: NC_000007.14:149861452:A:G
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149861453A>G, NC_000007.13:g.149558542A>G, NG_051961.1:g.27488A>G, NM_001099220.3:c.2293A>G, NM_001099220.2:c.2293A>G, NM_001099220.1:c.2293A>G, XM_006716085.4:c.2335A>G, XM_006716085.3:c.2335A>G, XM_006716085.2:c.2335A>G, XM_006716085.1:c.2335A>G, XM_011516465.3:c.1321A>G, XM_011516465.2:c.1321A>G, XM_011516465.1:c.1321A>G, XM_011516466.3:c.1060A>G, XM_011516466.2:c.1060A>G, XM_011516466.1:c.1060A>G, XM_011516464.2:c.2314A>G, XM_011516464.1:c.2314A>G, XM_017012519.2:c.2272A>G, XM_017012519.1:c.2272A>G, XM_011516463.1:c.2335A>G, XM_024446866.1:c.2041A>G, NP_001092690.1:p.Asn765Asp, XP_006716148.1:p.Asn779Asp, XP_011514767.1:p.Asn441Asp, XP_011514768.1:p.Asn354Asp, XP_011514766.1:p.Asn772Asp, XP_016868008.1:p.Asn758Asp, XP_011514765.1:p.Asn779Asp, XP_024302634.1:p.Asn681Asp

Select item 14843309579.

rs1484330957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:149848331 (GRCh38)
7:149545420 (GRCh37)
Canonical SPDI:: NC_000007.14:149848330:G:C
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.149848331G>C, NC_000007.13:g.149545420G>C, NG_051961.1:g.14366G>C, NM_001099220.3:c.838G>C, NM_001099220.2:c.838G>C, NM_001099220.1:c.838G>C, XM_006716085.4:c.880G>C, XM_006716085.3:c.880G>C, XM_006716085.2:c.880G>C, XM_006716085.1:c.880G>C, XM_011516464.2:c.859G>C, XM_011516464.1:c.859G>C, XM_017012519.2:c.817G>C, XM_017012519.1:c.817G>C, XM_011516463.1:c.880G>C, XM_024446866.1:c.586G>C, NP_001092690.1:p.Asp280His, XP_006716148.1:p.Asp294His, XP_011514766.1:p.Asp287His, XP_016868008.1:p.Asp273His, XP_011514765.1:p.Asp294His, XP_024302634.1:p.Asp196His

Select item 148399578510.

rs1483995785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:149848064 (GRCh38)
7:149545153 (GRCh37)
Canonical SPDI:: NC_000007.14:149848063:A:C
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.149848064A>C, NC_000007.13:g.149545153A>C, NG_051961.1:g.14099A>C, NM_001099220.3:c.571A>C, NM_001099220.2:c.571A>C, NM_001099220.1:c.571A>C, XM_006716085.4:c.613A>C, XM_006716085.3:c.613A>C, XM_006716085.2:c.613A>C, XM_006716085.1:c.613A>C, XM_011516464.2:c.592A>C, XM_011516464.1:c.592A>C, XM_017012519.2:c.550A>C, XM_017012519.1:c.550A>C, XM_011516463.1:c.613A>C, XM_024446866.1:c.319A>C, NP_001092690.1:p.Lys191Gln, XP_006716148.1:p.Lys205Gln, XP_011514766.1:p.Lys198Gln, XP_016868008.1:p.Lys184Gln, XP_011514765.1:p.Lys205Gln, XP_024302634.1:p.Lys107Gln

Select item 148353936711.

rs1483539367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:149861045 (GRCh38)
7:149558134 (GRCh37)
Canonical SPDI:: NC_000007.14:149861044:G:C
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149861045G>C, NC_000007.13:g.149558134G>C, NG_051961.1:g.27080G>C, NM_001099220.3:c.1885G>C, NM_001099220.2:c.1885G>C, NM_001099220.1:c.1885G>C, XM_006716085.4:c.1927G>C, XM_006716085.3:c.1927G>C, XM_006716085.2:c.1927G>C, XM_006716085.1:c.1927G>C, XM_011516465.3:c.913G>C, XM_011516465.2:c.913G>C, XM_011516465.1:c.913G>C, XM_011516466.3:c.652G>C, XM_011516466.2:c.652G>C, XM_011516466.1:c.652G>C, XM_011516464.2:c.1906G>C, XM_011516464.1:c.1906G>C, XM_017012519.2:c.1864G>C, XM_017012519.1:c.1864G>C, XM_011516463.1:c.1927G>C, XM_024446866.1:c.1633G>C, NP_001092690.1:p.Asp629His, XP_006716148.1:p.Asp643His, XP_011514767.1:p.Asp305His, XP_011514768.1:p.Asp218His, XP_011514766.1:p.Asp636His, XP_016868008.1:p.Asp622His, XP_011514765.1:p.Asp643His, XP_024302634.1:p.Asp545His

Select item 148273272812.

rs1482732728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:149848136 (GRCh38)
7:149545225 (GRCh37)
Canonical SPDI:: NC_000007.14:149848135:G:C
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149848136G>C, NC_000007.13:g.149545225G>C, NG_051961.1:g.14171G>C, NM_001099220.3:c.643G>C, NM_001099220.2:c.643G>C, NM_001099220.1:c.643G>C, XM_006716085.4:c.685G>C, XM_006716085.3:c.685G>C, XM_006716085.2:c.685G>C, XM_006716085.1:c.685G>C, XM_011516464.2:c.664G>C, XM_011516464.1:c.664G>C, XM_017012519.2:c.622G>C, XM_017012519.1:c.622G>C, XM_011516463.1:c.685G>C, XM_024446866.1:c.391G>C, NP_001092690.1:p.Ala215Pro, XP_006716148.1:p.Ala229Pro, XP_011514766.1:p.Ala222Pro, XP_016868008.1:p.Ala208Pro, XP_011514765.1:p.Ala229Pro, XP_024302634.1:p.Ala131Pro

Select item 148142669413.

rs1481426694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:149861456 (GRCh38)
7:149558545 (GRCh37)
Canonical SPDI:: NC_000007.14:149861455:G:A,NC_000007.14:149861455:G:T
Gene:: ZNF862 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149861456G>A, NC_000007.14:g.149861456G>T, NC_000007.13:g.149558545G>A, NC_000007.13:g.149558545G>T, NG_051961.1:g.27491G>A, NG_051961.1:g.27491G>T, NM_001099220.3:c.2296G>A, NM_001099220.3:c.2296G>T, NM_001099220.2:c.2296G>A, NM_001099220.2:c.2296G>T, NM_001099220.1:c.2296G>A, NM_001099220.1:c.2296G>T, XM_006716085.4:c.2338G>A, XM_006716085.4:c.2338G>T, XM_006716085.3:c.2338G>A, XM_006716085.3:c.2338G>T, XM_006716085.2:c.2338G>A, XM_006716085.2:c.2338G>T, XM_006716085.1:c.2338G>A, XM_006716085.1:c.2338G>T, XM_011516465.3:c.1324G>A, XM_011516465.3:c.1324G>T, XM_011516465.2:c.1324G>A, XM_011516465.2:c.1324G>T, XM_011516465.1:c.1324G>A, XM_011516465.1:c.1324G>T, XM_011516466.3:c.1063G>A, XM_011516466.3:c.1063G>T, XM_011516466.2:c.1063G>A, XM_011516466.2:c.1063G>T, XM_011516466.1:c.1063G>A, XM_011516466.1:c.1063G>T, XM_011516464.2:c.2317G>A, XM_011516464.2:c.2317G>T, XM_011516464.1:c.2317G>A, XM_011516464.1:c.2317G>T, XM_017012519.2:c.2275G>A, XM_017012519.2:c.2275G>T, XM_017012519.1:c.2275G>A, XM_017012519.1:c.2275G>T, XM_011516463.1:c.2338G>A, XM_011516463.1:c.2338G>T, XM_024446866.1:c.2044G>A, XM_024446866.1:c.2044G>T, NP_001092690.1:p.Glu766Lys, NP_001092690.1:p.Glu766Ter, XP_006716148.1:p.Glu780Lys, XP_006716148.1:p.Glu780Ter, XP_011514767.1:p.Glu442Lys, XP_011514767.1:p.Glu442Ter, XP_011514768.1:p.Glu355Lys, XP_011514768.1:p.Glu355Ter, XP_011514766.1:p.Glu773Lys, XP_011514766.1:p.Glu773Ter, XP_016868008.1:p.Glu759Lys, XP_016868008.1:p.Glu759Ter, XP_011514765.1:p.Glu780Lys, XP_011514765.1:p.Glu780Ter, XP_024302634.1:p.Glu682Lys, XP_024302634.1:p.Glu682Ter

Select item 148101541614.

rs1481015416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:149861511 (GRCh38)
7:149558600 (GRCh37)
Canonical SPDI:: NC_000007.14:149861510:T:A
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149861511T>A, NC_000007.13:g.149558600T>A, NG_051961.1:g.27546T>A, NM_001099220.3:c.2351T>A, NM_001099220.2:c.2351T>A, NM_001099220.1:c.2351T>A, XM_006716085.4:c.2393T>A, XM_006716085.3:c.2393T>A, XM_006716085.2:c.2393T>A, XM_006716085.1:c.2393T>A, XM_011516465.3:c.1379T>A, XM_011516465.2:c.1379T>A, XM_011516465.1:c.1379T>A, XM_011516466.3:c.1118T>A, XM_011516466.2:c.1118T>A, XM_011516466.1:c.1118T>A, XM_011516464.2:c.2372T>A, XM_011516464.1:c.2372T>A, XM_017012519.2:c.2330T>A, XM_017012519.1:c.2330T>A, XM_011516463.1:c.2393T>A, XM_024446866.1:c.2099T>A, NP_001092690.1:p.Leu784Gln, XP_006716148.1:p.Leu798Gln, XP_011514767.1:p.Leu460Gln, XP_011514768.1:p.Leu373Gln, XP_011514766.1:p.Leu791Gln, XP_016868008.1:p.Leu777Gln, XP_011514765.1:p.Leu798Gln, XP_024302634.1:p.Leu700Gln

Select item 148081460515.

rs1480814605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149844634 (GRCh38)
7:149541723 (GRCh37)
Canonical SPDI:: NC_000007.14:149844633:A:G
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.149844634A>G, NC_000007.13:g.149541723A>G, NG_051961.1:g.10669A>G, NM_001099220.3:c.34A>G, NM_001099220.2:c.34A>G, NM_001099220.1:c.34A>G, XM_006716085.4:c.76A>G, XM_006716085.3:c.76A>G, XM_006716085.2:c.76A>G, XM_006716085.1:c.76A>G, XM_011516464.2:c.55A>G, XM_011516464.1:c.55A>G, XM_017012519.2:c.13A>G, XM_017012519.1:c.13A>G, XM_011516463.1:c.76A>G, XM_024446866.1:c.-219A>G, NP_001092690.1:p.Thr12Ala, XP_006716148.1:p.Thr26Ala, XP_011514766.1:p.Thr19Ala, XP_016868008.1:p.Thr5Ala, XP_011514765.1:p.Thr26Ala

Select item 147928969716.

rs1479289697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:149860594 (GRCh38)
7:149557683 (GRCh37)
Canonical SPDI:: NC_000007.14:149860593:T:C,NC_000007.14:149860593:T:G
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149860594T>C, NC_000007.14:g.149860594T>G, NC_000007.13:g.149557683T>C, NC_000007.13:g.149557683T>G, NG_051961.1:g.26629T>C, NG_051961.1:g.26629T>G, NM_001099220.3:c.1434T>C, NM_001099220.3:c.1434T>G, NM_001099220.2:c.1434T>C, NM_001099220.2:c.1434T>G, NM_001099220.1:c.1434T>C, NM_001099220.1:c.1434T>G, XM_006716085.4:c.1476T>C, XM_006716085.4:c.1476T>G, XM_006716085.3:c.1476T>C, XM_006716085.3:c.1476T>G, XM_006716085.2:c.1476T>C, XM_006716085.2:c.1476T>G, XM_006716085.1:c.1476T>C, XM_006716085.1:c.1476T>G, XM_011516465.3:c.462T>C, XM_011516465.3:c.462T>G, XM_011516465.2:c.462T>C, XM_011516465.2:c.462T>G, XM_011516465.1:c.462T>C, XM_011516465.1:c.462T>G, XM_011516466.3:c.201T>C, XM_011516466.3:c.201T>G, XM_011516466.2:c.201T>C, XM_011516466.2:c.201T>G, XM_011516466.1:c.201T>C, XM_011516466.1:c.201T>G, XM_011516464.2:c.1455T>C, XM_011516464.2:c.1455T>G, XM_011516464.1:c.1455T>C, XM_011516464.1:c.1455T>G, XM_017012519.2:c.1413T>C, XM_017012519.2:c.1413T>G, XM_017012519.1:c.1413T>C, XM_017012519.1:c.1413T>G, XM_011516463.1:c.1476T>C, XM_011516463.1:c.1476T>G, XM_024446866.1:c.1182T>C, XM_024446866.1:c.1182T>G, NP_001092690.1:p.Ile478Met, XP_006716148.1:p.Ile492Met, XP_011514767.1:p.Ile154Met, XP_011514768.1:p.Ile67Met, XP_011514766.1:p.Ile485Met, XP_016868008.1:p.Ile471Met, XP_011514765.1:p.Ile492Met, XP_024302634.1:p.Ile394Met

Select item 147913710317.

rs1479137103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:149861202 (GRCh38)
7:149558291 (GRCh37)
Canonical SPDI:: NC_000007.14:149861201:T:G
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149861202T>G, NC_000007.13:g.149558291T>G, NG_051961.1:g.27237T>G, NM_001099220.3:c.2042T>G, NM_001099220.2:c.2042T>G, NM_001099220.1:c.2042T>G, XM_006716085.4:c.2084T>G, XM_006716085.3:c.2084T>G, XM_006716085.2:c.2084T>G, XM_006716085.1:c.2084T>G, XM_011516465.3:c.1070T>G, XM_011516465.2:c.1070T>G, XM_011516465.1:c.1070T>G, XM_011516466.3:c.809T>G, XM_011516466.2:c.809T>G, XM_011516466.1:c.809T>G, XM_011516464.2:c.2063T>G, XM_011516464.1:c.2063T>G, XM_017012519.2:c.2021T>G, XM_017012519.1:c.2021T>G, XM_011516463.1:c.2084T>G, XM_024446866.1:c.1790T>G, NP_001092690.1:p.Leu681Arg, XP_006716148.1:p.Leu695Arg, XP_011514767.1:p.Leu357Arg, XP_011514768.1:p.Leu270Arg, XP_011514766.1:p.Leu688Arg, XP_016868008.1:p.Leu674Arg, XP_011514765.1:p.Leu695Arg, XP_024302634.1:p.Leu597Arg

Select item 147781028418.

rs1477810284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149862296 (GRCh38)
7:149559385 (GRCh37)
Canonical SPDI:: NC_000007.14:149862295:A:G
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149862296A>G, NC_000007.13:g.149559385A>G, NG_051961.1:g.28331A>G, NM_001099220.3:c.3136A>G, NM_001099220.2:c.3136A>G, NM_001099220.1:c.3136A>G, XM_006716085.4:c.3178A>G, XM_006716085.3:c.3178A>G, XM_006716085.2:c.3178A>G, XM_006716085.1:c.3178A>G, XM_011516465.3:c.2164A>G, XM_011516465.2:c.2164A>G, XM_011516465.1:c.2164A>G, XM_011516466.3:c.1903A>G, XM_011516466.2:c.1903A>G, XM_011516466.1:c.1903A>G, XM_011516464.2:c.3157A>G, XM_011516464.1:c.3157A>G, XM_017012519.2:c.3115A>G, XM_017012519.1:c.3115A>G, XM_011516463.1:c.3178A>G, XM_024446866.1:c.2884A>G, NP_001092690.1:p.Met1046Val, XP_006716148.1:p.Met1060Val, XP_011514767.1:p.Met722Val, XP_011514768.1:p.Met635Val, XP_011514766.1:p.Met1053Val, XP_016868008.1:p.Met1039Val, XP_011514765.1:p.Met1060Val, XP_024302634.1:p.Met962Val

Select item 147687416119.

rs1476874161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:149861975 (GRCh38)
7:149559064 (GRCh37)
Canonical SPDI:: NC_000007.14:149861974:G:C
Gene:: ZNF862 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.149861975G>C, NC_000007.13:g.149559064G>C, NG_051961.1:g.28010G>C, NM_001099220.3:c.2815G>C, NM_001099220.2:c.2815G>C, NM_001099220.1:c.2815G>C, XM_006716085.4:c.2857G>C, XM_006716085.3:c.2857G>C, XM_006716085.2:c.2857G>C, XM_006716085.1:c.2857G>C, XM_011516465.3:c.1843G>C, XM_011516465.2:c.1843G>C, XM_011516465.1:c.1843G>C, XM_011516466.3:c.1582G>C, XM_011516466.2:c.1582G>C, XM_011516466.1:c.1582G>C, XM_011516464.2:c.2836G>C, XM_011516464.1:c.2836G>C, XM_017012519.2:c.2794G>C, XM_017012519.1:c.2794G>C, XM_011516463.1:c.2857G>C, XM_024446866.1:c.2563G>C, NP_001092690.1:p.Asp939His, XP_006716148.1:p.Asp953His, XP_011514767.1:p.Asp615His, XP_011514768.1:p.Asp528His, XP_011514766.1:p.Asp946His, XP_016868008.1:p.Asp932His, XP_011514765.1:p.Asp953His, XP_024302634.1:p.Asp855His

Select item 147640423720.

rs1476404237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149847839 (GRCh38)
7:149544928 (GRCh37)
Canonical SPDI:: NC_000007.14:149847838:A:G
Gene:: ZNF862 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149847839A>G, NC_000007.13:g.149544928A>G, NG_051961.1:g.13874A>G, NM_001099220.3:c.346A>G, NM_001099220.2:c.346A>G, NM_001099220.1:c.346A>G, XM_006716085.4:c.388A>G, XM_006716085.3:c.388A>G, XM_006716085.2:c.388A>G, XM_006716085.1:c.388A>G, XM_011516464.2:c.367A>G, XM_011516464.1:c.367A>G, XM_017012519.2:c.325A>G, XM_017012519.1:c.325A>G, XM_011516463.1:c.388A>G, XM_024446866.1:c.94A>G, NP_001092690.1:p.Ser116Gly, XP_006716148.1:p.Ser130Gly, XP_011514766.1:p.Ser123Gly, XP_016868008.1:p.Ser109Gly, XP_011514765.1:p.Ser130Gly, XP_024302634.1:p.Ser32Gly

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Items: 1 to 20 of 1325

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