SNP Links for Protein (Select 602617433) - SNP

Links from Protein

Items: 1 to 20 of 150

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Select item 14907883101.

rs1490788310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153073447 (GRCh38)
X:152339292 (GRCh37)
Canonical SPDI:: NC_000023.11:153073446:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00021/3 (ALFA)
A=0.00011/9 (GnomAD)
HGVS:: NC_000023.11:g.153073447G>A, NW_003871103.3:g.507430G>A, NG_016372.2:g.5976G>A, NM_032882.6:c.385G>A, NM_032882.5:c.385G>A, NM_032882.4:c.385G>A, NC_000023.10:g.152339292G>A, NM_001170944.1:c.385G>A, NM_001242319.1:c.385G>A, NP_116271.3:p.Gly129Arg

Select item 14876618722.

rs1487661872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153073598 (GRCh38)
X:152339443 (GRCh37)
Canonical SPDI:: NC_000023.11:153073597:C:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/1 (GnomAD)
HGVS:: NC_000023.11:g.153073598C>T, NW_003871103.3:g.507581C>T, NG_016372.2:g.6127C>T, NM_032882.6:c.536C>T, NM_032882.5:c.536C>T, NM_032882.4:c.536C>T, NC_000023.10:g.152339443C>T, NM_001170944.1:c.536C>T, NM_001242319.1:c.536C>T, NP_116271.3:p.Thr179Ile

Select item 14875318113.

rs1487531811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:153074102 (GRCh38)
X:152339947 (GRCh37)
Canonical SPDI:: NC_000023.11:153074101:G:A,NC_000023.11:153074101:G:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00083/35 (GnomAD)
HGVS:: NC_000023.11:g.153074102G>A, NC_000023.11:g.153074102G>T, NW_003871103.3:g.508085G>A, NW_003871103.3:g.508085G>T, NG_016372.2:g.6631G>A, NG_016372.2:g.6631G>T, NM_032882.6:c.1040G>A, NM_032882.6:c.1040G>T, NM_032882.5:c.1040G>A, NM_032882.5:c.1040G>T, NM_032882.4:c.1040G>A, NM_032882.4:c.1040G>T, NC_000023.10:g.152339947G>A, NC_000023.10:g.152339947G>T, NM_001170944.1:c.1040G>A, NM_001170944.1:c.1040G>T, NM_001242319.1:c.1040G>A, NM_001242319.1:c.1040G>T, NP_116271.3:p.Arg347Gln, NP_116271.3:p.Arg347Leu

Select item 14861848744.

rs1486184874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153073434 (GRCh38)
X:152339279 (GRCh37)
Canonical SPDI:: NC_000023.11:153073433:C:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.153073434C>T, NW_003871103.3:g.507417C>T, NG_016372.2:g.5963C>T, NM_032882.6:c.372C>T, NM_032882.5:c.372C>T, NM_032882.4:c.372C>T, NC_000023.10:g.152339279C>T, NM_001170944.1:c.372C>T, NM_001242319.1:c.372C>T

Select item 14812826825.

rs1481282682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153073555 (GRCh38)
X:152339400 (GRCh37)
Canonical SPDI:: NC_000023.11:153073554:G:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.153073555G>T, NW_003871103.3:g.507538G>T, NG_016372.2:g.6084G>T, NM_032882.6:c.493G>T, NM_032882.5:c.493G>T, NM_032882.4:c.493G>T, NC_000023.10:g.152339400G>T, NM_001170944.1:c.493G>T, NM_001242319.1:c.493G>T, NP_116271.3:p.Ala165Ser

Select item 14803394166.

rs1480339416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153073710 (GRCh38)
X:152339555 (GRCh37)
Canonical SPDI:: NC_000023.11:153073709:C:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00008/4 (GnomAD)
HGVS:: NC_000023.11:g.153073710C>T, NW_003871103.3:g.507693C>T, NG_016372.2:g.6239C>T, NM_032882.6:c.648C>T, NM_032882.5:c.648C>T, NM_032882.4:c.648C>T, NC_000023.10:g.152339555C>T, NM_001170944.1:c.648C>T, NM_001242319.1:c.648C>T

Select item 14693668697.

rs1469366869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:153073231 (GRCh38)
X:152339076 (GRCh37)
Canonical SPDI:: NC_000023.11:153073230:C:G,NC_000023.11:153073230:C:T
Gene:: PNMA6A (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000023.11:g.153073231C>G, NC_000023.11:g.153073231C>T, NW_003871103.3:g.507214C>G, NW_003871103.3:g.507214C>T, NG_016372.2:g.5760C>G, NG_016372.2:g.5760C>T, NM_032882.6:c.169C>G, NM_032882.6:c.169C>T, NM_032882.5:c.169C>G, NM_032882.5:c.169C>T, NM_032882.4:c.169C>G, NM_032882.4:c.169C>T, NC_000023.10:g.152339076C>G, NC_000023.10:g.152339076C>T, NM_001170944.1:c.169C>G, NM_001170944.1:c.169C>T, NM_001242319.1:c.169C>G, NM_001242319.1:c.169C>T, NP_116271.3:p.Arg57Gly, NP_116271.3:p.Arg57Ter

Select item 14645841288.

rs1464584128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:153074257 (GRCh38)
X:152340102 (GRCh37)
Canonical SPDI:: NC_000023.11:153074256:A:T
Gene:: PNMA6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153074257A>T, NW_003871103.3:g.508240A>T, NG_016372.2:g.6786A>T, NM_032882.6:c.1195A>T, NM_032882.5:c.1195A>T, NM_032882.4:c.1195A>T, NC_000023.10:g.152340102A>T, NM_001170944.1:c.1195A>T, NM_001242319.1:c.1195A>T, NP_116271.3:p.Asn399Tyr

Select item 14643164279.

rs1464316427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153073840 (GRCh38)
X:152339685 (GRCh37)
Canonical SPDI:: NC_000023.11:153073839:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/1 (GnomAD)
HGVS:: NC_000023.11:g.153073840G>A, NW_003871103.3:g.507823G>A, NG_016372.2:g.6369G>A, NM_032882.6:c.778G>A, NM_032882.5:c.778G>A, NM_032882.4:c.778G>A, NC_000023.10:g.152339685G>A, NM_001170944.1:c.778G>A, NM_001242319.1:c.778G>A, NP_116271.3:p.Val260Met

Select item 146200580710.

rs1462005807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:153073665 (GRCh38)
X:152339511 (GRCh37)
Canonical SPDI:: NC_000023.11:153073665:C:CC
Gene:: PNMA6A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000023.11:g.153073666dup, NW_003871103.3:g.507649dup, NG_016372.2:g.6195dup, NM_032882.6:c.604dup, NM_032882.5:c.604dup, NM_032882.4:c.604dup, NC_000023.10:g.152339511dup, NM_001170944.1:c.604dup, NM_001242319.1:c.604dup, NP_116271.3:p.Arg202fs

Select item 146184999611.

rs1461849996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153073885 (GRCh38)
X:152339730 (GRCh37)
Canonical SPDI:: NC_000023.11:153073884:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.153073885G>A, NW_003871103.3:g.507868G>A, NG_016372.2:g.6414G>A, NM_032882.6:c.823G>A, NM_032882.5:c.823G>A, NM_032882.4:c.823G>A, NC_000023.10:g.152339730G>A, NM_001170944.1:c.823G>A, NM_001242319.1:c.823G>A, NP_116271.3:p.Ala275Thr

Select item 146049183512.

rs1460491835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153073274 (GRCh38)
X:152339119 (GRCh37)
Canonical SPDI:: NC_000023.11:153073273:G:A,NC_000023.11:153073273:G:C
Gene:: PNMA6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.153073274G>A, NC_000023.11:g.153073274G>C, NW_003871103.3:g.507257G>A, NW_003871103.3:g.507257G>C, NG_016372.2:g.5803G>A, NG_016372.2:g.5803G>C, NM_032882.6:c.212G>A, NM_032882.6:c.212G>C, NM_032882.5:c.212G>A, NM_032882.5:c.212G>C, NM_032882.4:c.212G>A, NM_032882.4:c.212G>C, NC_000023.10:g.152339119G>A, NC_000023.10:g.152339119G>C, NM_001170944.1:c.212G>A, NM_001170944.1:c.212G>C, NM_001242319.1:c.212G>A, NM_001242319.1:c.212G>C, NP_116271.3:p.Arg71Gln, NP_116271.3:p.Arg71Pro

Select item 145605274913.

rs1456052749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153073115 (GRCh38)
X:152338960 (GRCh37)
Canonical SPDI:: NC_000023.11:153073114:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.153073115G>A, NW_003871103.3:g.507098G>A, NG_016372.2:g.5644G>A, NM_032882.6:c.53G>A, NM_032882.5:c.53G>A, NM_032882.4:c.53G>A, NC_000023.10:g.152338960G>A, NM_001170944.1:c.53G>A, NM_001242319.1:c.53G>A, NP_116271.3:p.Arg18His

Select item 145413072714.

rs1454130727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153073826 (GRCh38)
X:152339671 (GRCh37)
Canonical SPDI:: NC_000023.11:153073825:G:A,NC_000023.11:153073825:G:C
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00027/6 (TOMMO)
A=0.00042/2 (1000Genomes)
HGVS:: NC_000023.11:g.153073826G>A, NC_000023.11:g.153073826G>C, NW_003871103.3:g.507809G>A, NW_003871103.3:g.507809G>C, NG_016372.2:g.6355G>A, NG_016372.2:g.6355G>C, NM_032882.6:c.764G>A, NM_032882.6:c.764G>C, NM_032882.5:c.764G>A, NM_032882.5:c.764G>C, NM_032882.4:c.764G>A, NM_032882.4:c.764G>C, NC_000023.10:g.152339671G>A, NC_000023.10:g.152339671G>C, NM_001170944.1:c.764G>A, NM_001170944.1:c.764G>C, NM_001242319.1:c.764G>A, NM_001242319.1:c.764G>C, NP_116271.3:p.Arg255His, NP_116271.3:p.Arg255Pro

Select item 145195447015.

rs1451954470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153073323 (GRCh38)
X:152339168 (GRCh37)
Canonical SPDI:: NC_000023.11:153073322:C:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000018/1 (GnomAD)
HGVS:: NC_000023.11:g.153073323C>T, NW_003871103.3:g.507306C>T, NG_016372.2:g.5852C>T, NM_032882.6:c.261C>T, NM_032882.5:c.261C>T, NM_032882.4:c.261C>T, NC_000023.10:g.152339168C>T, NM_001170944.1:c.261C>T, NM_001242319.1:c.261C>T

Select item 145188531316.

rs1451885313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153074192 (GRCh38)
X:152340037 (GRCh37)
Canonical SPDI:: NC_000023.11:153074191:C:G
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.153074192C>G, NW_003871103.3:g.508175C>G, NG_016372.2:g.6721C>G, NM_032882.6:c.1130C>G, NM_032882.5:c.1130C>G, NM_032882.4:c.1130C>G, NC_000023.10:g.152340037C>G, NM_001170944.1:c.1130C>G, NM_001242319.1:c.1130C>G, NP_116271.3:p.Ala377Gly

Select item 144928992217.

rs1449289922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153074090 (GRCh38)
X:152339935 (GRCh37)
Canonical SPDI:: NC_000023.11:153074089:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/1 (GnomAD)
HGVS:: NC_000023.11:g.153074090G>A, NW_003871103.3:g.508073G>A, NG_016372.2:g.6619G>A, NM_032882.6:c.1028G>A, NM_032882.5:c.1028G>A, NM_032882.4:c.1028G>A, NC_000023.10:g.152339935G>A, NM_001170944.1:c.1028G>A, NM_001242319.1:c.1028G>A, NP_116271.3:p.Gly343Glu

Select item 144529160218.

rs1445291602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153074026 (GRCh38)
X:152339871 (GRCh37)
Canonical SPDI:: NC_000023.11:153074025:G:A
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.153074026G>A, NW_003871103.3:g.508009G>A, NG_016372.2:g.6555G>A, NM_032882.6:c.964G>A, NM_032882.5:c.964G>A, NM_032882.4:c.964G>A, NC_000023.10:g.152339871G>A, NM_001170944.1:c.964G>A, NM_001242319.1:c.964G>A, NP_116271.3:p.Val322Ile

Select item 144343057619.

rs1443430576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153073416 (GRCh38)
X:152339261 (GRCh37)
Canonical SPDI:: NC_000023.11:153073415:G:T
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.153073416G>T, NW_003871103.3:g.507399G>T, NG_016372.2:g.5945G>T, NM_032882.6:c.354G>T, NM_032882.5:c.354G>T, NM_032882.4:c.354G>T, NC_000023.10:g.152339261G>T, NM_001170944.1:c.354G>T, NM_001242319.1:c.354G>T, NP_116271.3:p.Met118Ile

Select item 144034027320.

rs1440340273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153073209 (GRCh38)
X:152339054 (GRCh37)
Canonical SPDI:: NC_000023.11:153073208:T:C
Gene:: PNMA6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00118/14 (ALFA)
C=0.00304/64 (GnomAD)
HGVS:: NC_000023.11:g.153073209T>C, NW_003871103.3:g.507192T>C, NG_016372.2:g.5738T>C, NM_032882.6:c.147T>C, NM_032882.5:c.147T>C, NM_032882.4:c.147T>C, NC_000023.10:g.152339054T>C, NM_001170944.1:c.147T>C, NM_001242319.1:c.147T>C

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