SNP Links for Protein (Select 557948116) - SNP

Links from Protein

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Select item 14843449281.

rs1484344928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:80008600 (GRCh38)
4:80929754 (GRCh37)
Canonical SPDI:: NC_000004.12:80008599:G:A,NC_000004.12:80008599:G:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000004.12:g.80008600G>A, NC_000004.12:g.80008600G>T, NC_000004.11:g.80929754G>A, NC_000004.11:g.80929754G>T, NG_015987.1:g.69724C>T, NG_015987.1:g.69724C>A, NM_058172.6:c.962C>T, NM_058172.6:c.962C>A, NM_058172.5:c.962C>T, NM_058172.5:c.962C>A, NM_001286781.2:c.731C>T, NM_001286781.2:c.731C>A, NM_001286781.1:c.731C>T, NM_001286781.1:c.731C>A, NM_001286780.2:c.731C>T, NM_001286780.2:c.731C>A, NM_001286780.1:c.731C>T, NM_001286780.1:c.731C>A, NM_001145794.2:c.962C>T, NM_001145794.2:c.962C>A, NM_001145794.1:c.962C>T, NM_001145794.1:c.962C>A, NP_477520.2:p.Ala321Val, NP_477520.2:p.Ala321Asp, NP_001273710.1:p.Ala244Val, NP_001273710.1:p.Ala244Asp, NP_001273709.1:p.Ala244Val, NP_001273709.1:p.Ala244Asp, NP_001139266.1:p.Ala321Val, NP_001139266.1:p.Ala321Asp

Select item 14769090142.

rs1476909014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:80008569 (GRCh38)
4:80929723 (GRCh37)
Canonical SPDI:: NC_000004.12:80008568:G:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.80008569G>C, NC_000004.11:g.80929723G>C, NG_015987.1:g.69755C>G, NM_058172.6:c.993C>G, NM_058172.5:c.993C>G, NM_001286781.2:c.762C>G, NM_001286781.1:c.762C>G, NM_001286780.2:c.762C>G, NM_001286780.1:c.762C>G, NM_001145794.2:c.993C>G, NM_001145794.1:c.993C>G

Select item 14733866243.

rs1473386624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:80069472 (GRCh38)
4:80990626 (GRCh37)
Canonical SPDI:: NC_000004.12:80069471:G:A
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000025/6 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000004.12:g.80069472G>A, NC_000004.11:g.80990626G>A, NG_015987.1:g.8852C>T, NM_058172.6:c.260C>T, NM_058172.5:c.260C>T, NM_001286781.2:c.29C>T, NM_001286781.1:c.29C>T, NM_001286780.2:c.29C>T, NM_001286780.1:c.29C>T, NM_001145794.2:c.260C>T, NM_001145794.1:c.260C>T, NP_477520.2:p.Ser87Phe, NP_001273710.1:p.Ser10Phe, NP_001273709.1:p.Ser10Phe, NP_001139266.1:p.Ser87Phe

Select item 14719769694.

rs1471976969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:79977675 (GRCh38)
4:80898829 (GRCh37)
Canonical SPDI:: NC_000004.12:79977674:C:A,NC_000004.12:79977674:C:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.79977675C>A, NC_000004.12:g.79977675C>T, NC_000004.11:g.80898829C>A, NC_000004.11:g.80898829C>T, NG_015987.1:g.100649G>T, NG_015987.1:g.100649G>A, NM_058172.6:c.1374G>T, NM_058172.6:c.1374G>A, NM_058172.5:c.1374G>T, NM_058172.5:c.1374G>A, NM_001286781.2:c.1143G>T, NM_001286781.2:c.1143G>A, NM_001286781.1:c.1143G>T, NM_001286781.1:c.1143G>A, NM_001286780.2:c.1143G>T, NM_001286780.2:c.1143G>A, NM_001286780.1:c.1143G>T, NM_001286780.1:c.1143G>A, NM_001145794.2:c.1374G>T, NM_001145794.2:c.1374G>A, NM_001145794.1:c.1374G>T, NM_001145794.1:c.1374G>A, NP_477520.2:p.Leu458Phe, NP_001273710.1:p.Leu381Phe, NP_001273709.1:p.Leu381Phe, NP_001139266.1:p.Leu458Phe

Select item 14711550415.

rs1471155041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:79978164 (GRCh38)
4:80899318 (GRCh37)
Canonical SPDI:: NC_000004.12:79978163:C:A
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.79978164C>A, NC_000004.11:g.80899318C>A, NG_015987.1:g.100160G>T, NM_058172.6:c.1190G>T, NM_058172.5:c.1190G>T, NM_001286781.2:c.959G>T, NM_001286781.1:c.959G>T, NM_001286780.2:c.959G>T, NM_001286780.1:c.959G>T, NM_001145794.2:c.1190G>T, NM_001145794.1:c.1190G>T, NP_477520.2:p.Gly397Val, NP_001273710.1:p.Gly320Val, NP_001273709.1:p.Gly320Val, NP_001139266.1:p.Gly397Val

Select item 14694160826.

rs1469416082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:80033552 (GRCh38)
4:80954706 (GRCh37)
Canonical SPDI:: NC_000004.12:80033551:A:G
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.80033552A>G, NC_000004.11:g.80954706A>G, NG_015987.1:g.44772T>C, NM_058172.6:c.716T>C, NM_058172.5:c.716T>C, NM_001286781.2:c.485T>C, NM_001286781.1:c.485T>C, NM_001286780.2:c.485T>C, NM_001286780.1:c.485T>C, NM_001145794.2:c.716T>C, NM_001145794.1:c.716T>C, NP_477520.2:p.Leu239Ser, NP_001273710.1:p.Leu162Ser, NP_001273709.1:p.Leu162Ser, NP_001139266.1:p.Leu239Ser

Select item 14691561657.

rs1469156165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:80031662 (GRCh38)
4:80952816 (GRCh37)
Canonical SPDI:: NC_000004.12:80031661:G:A,NC_000004.12:80031661:G:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00014/2 (ALFA)
HGVS:: NC_000004.12:g.80031662G>A, NC_000004.12:g.80031662G>C, NC_000004.11:g.80952816G>A, NC_000004.11:g.80952816G>C, NG_015987.1:g.46662C>T, NG_015987.1:g.46662C>G, NM_058172.6:c.827C>T, NM_058172.6:c.827C>G, NM_058172.5:c.827C>T, NM_058172.5:c.827C>G, NM_001286781.2:c.596C>T, NM_001286781.2:c.596C>G, NM_001286781.1:c.596C>T, NM_001286781.1:c.596C>G, NM_001286780.2:c.596C>T, NM_001286780.2:c.596C>G, NM_001286780.1:c.596C>T, NM_001286780.1:c.596C>G, NM_001145794.2:c.827C>T, NM_001145794.2:c.827C>G, NM_001145794.1:c.827C>T, NM_001145794.1:c.827C>G, NP_477520.2:p.Ser276Phe, NP_477520.2:p.Ser276Cys, NP_001273710.1:p.Ser199Phe, NP_001273710.1:p.Ser199Cys, NP_001273709.1:p.Ser199Phe, NP_001273709.1:p.Ser199Cys, NP_001139266.1:p.Ser276Phe, NP_001139266.1:p.Ser276Cys

Select item 14690616318.

rs1469061631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79978148 (GRCh38)
4:80899302 (GRCh37)
Canonical SPDI:: NC_000004.12:79978147:A:G
Gene:: ANTXR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.79978148A>G, NC_000004.11:g.80899302A>G, NG_015987.1:g.100176T>C, NM_058172.6:c.1206T>C, NM_058172.5:c.1206T>C, NM_001286781.2:c.975T>C, NM_001286781.1:c.975T>C, NM_001286780.2:c.975T>C, NM_001286780.1:c.975T>C, NM_001145794.2:c.1206T>C, NM_001145794.1:c.1206T>C

Select item 14660858249.

rs1466085824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:80018926 (GRCh38)
4:80940080 (GRCh37)
Canonical SPDI:: NC_000004.12:80018925:C:A
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.80018926C>A, NC_000004.11:g.80940080C>A, NG_015987.1:g.59398G>T, NM_058172.6:c.917G>T, NM_058172.5:c.917G>T, NM_001286781.2:c.686G>T, NM_001286781.1:c.686G>T, NM_001286780.2:c.686G>T, NM_001286780.1:c.686G>T, NM_001145794.2:c.917G>T, NM_001145794.1:c.917G>T, NP_477520.2:p.Gly306Val, NP_001273710.1:p.Gly229Val, NP_001273709.1:p.Gly229Val, NP_001139266.1:p.Gly306Val

Select item 146544214710.

rs1465442147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:80031672 (GRCh38)
4:80952826 (GRCh37)
Canonical SPDI:: NC_000004.12:80031671:G:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.80031672G>T, NC_000004.11:g.80952826G>T, NG_015987.1:g.46652C>A, NM_058172.6:c.817C>A, NM_058172.5:c.817C>A, NM_001286781.2:c.586C>A, NM_001286781.1:c.586C>A, NM_001286780.2:c.586C>A, NM_001286780.1:c.586C>A, NM_001145794.2:c.817C>A, NM_001145794.1:c.817C>A, NP_477520.2:p.Gln273Lys, NP_001273710.1:p.Gln196Lys, NP_001273709.1:p.Gln196Lys, NP_001139266.1:p.Gln273Lys

Select item 146472306511.

rs1464723065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:79984834 (GRCh38)
4:80905988 (GRCh37)
Canonical SPDI:: NC_000004.12:79984833:G:C,NC_000004.12:79984833:G:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.79984834G>C, NC_000004.12:g.79984834G>T, NC_000004.11:g.80905988G>C, NC_000004.11:g.80905988G>T, NG_015987.1:g.93490C>G, NG_015987.1:g.93490C>A, NM_058172.6:c.1071C>G, NM_058172.6:c.1071C>A, NM_058172.5:c.1071C>G, NM_058172.5:c.1071C>A, NM_001286781.2:c.840C>G, NM_001286781.2:c.840C>A, NM_001286781.1:c.840C>G, NM_001286781.1:c.840C>A, NM_001286780.2:c.840C>G, NM_001286780.2:c.840C>A, NM_001286780.1:c.840C>G, NM_001286780.1:c.840C>A, NM_001145794.2:c.1071C>G, NM_001145794.2:c.1071C>A, NM_001145794.1:c.1071C>G, NM_001145794.1:c.1071C>A

Select item 146117022912.

rs1461170229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:79907456 (GRCh38)
4:80828610 (GRCh37)
Canonical SPDI:: NC_000004.12:79907455:T:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.79907456T>C, NC_000004.11:g.80828610T>C, NG_015987.1:g.170868A>G, NM_058172.6:c.1440A>G, NM_058172.5:c.1440A>G, NM_001286781.2:c.1209A>G, NM_001286781.1:c.1209A>G, NM_001286780.2:c.1209A>G, NM_001286780.1:c.1209A>G, NP_477520.2:p.Ile480Met, NP_001273710.1:p.Ile403Met, NP_001273709.1:p.Ile403Met

Select item 146078364913.

rs1460783649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:79978039 (GRCh38)
4:80899193 (GRCh37)
Canonical SPDI:: NC_000004.12:79978038:G:A
Gene:: ANTXR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.79978039G>A, NC_000004.11:g.80899193G>A, NG_015987.1:g.100285C>T, NM_058172.6:c.1315C>T, NM_058172.5:c.1315C>T, NM_001286781.2:c.1084C>T, NM_001286781.1:c.1084C>T, NM_001286780.2:c.1084C>T, NM_001286780.1:c.1084C>T, NM_001145794.2:c.1315C>T, NM_001145794.1:c.1315C>T, NP_477520.2:p.Pro439Ser, NP_001273710.1:p.Pro362Ser, NP_001273709.1:p.Pro362Ser, NP_001139266.1:p.Pro439Ser

Select item 146034744114.

rs1460347441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80055216 (GRCh38)
4:80976370 (GRCh37)
Canonical SPDI:: NC_000004.12:80055215:T:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.80055216T>C, NC_000004.11:g.80976370T>C, NG_015987.1:g.23108A>G, NM_058172.6:c.489A>G, NM_058172.5:c.489A>G, NM_001286781.2:c.258A>G, NM_001286781.1:c.258A>G, NM_001286780.2:c.258A>G, NM_001286780.1:c.258A>G, NM_001145794.2:c.489A>G, NM_001145794.1:c.489A>G

Select item 145933270615.

rs1459332706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:80031626 (GRCh38)
4:80952780 (GRCh37)
Canonical SPDI:: NC_000004.12:80031625:C:G
Gene:: ANTXR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.80031626C>G, NC_000004.11:g.80952780C>G, NG_015987.1:g.46698G>C, NM_058172.6:c.863G>C, NM_058172.5:c.863G>C, NM_001286781.2:c.632G>C, NM_001286781.1:c.632G>C, NM_001286780.2:c.632G>C, NM_001286780.1:c.632G>C, NM_001145794.2:c.863G>C, NM_001145794.1:c.863G>C, NP_477520.2:p.Gly288Ala, NP_001273710.1:p.Gly211Ala, NP_001273709.1:p.Gly211Ala, NP_001139266.1:p.Gly288Ala

Select item 145673375316.

rs1456733753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:79983942 (GRCh38)
4:80905096 (GRCh37)
Canonical SPDI:: NC_000004.12:79983941:T:A
Gene:: ANTXR2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79983942T>A, NC_000004.11:g.80905096T>A, NG_015987.1:g.94382A>T, NM_058172.6:c.1115A>T, NM_058172.5:c.1115A>T, NM_001286781.2:c.884A>T, NM_001286781.1:c.884A>T, NM_001286780.2:c.884A>T, NM_001286780.1:c.884A>T, NM_001145794.2:c.1115A>T, NM_001145794.1:c.1115A>T, NP_477520.2:p.Lys372Met, NP_001273710.1:p.Lys295Met, NP_001273709.1:p.Lys295Met, NP_001139266.1:p.Lys372Met

Select item 145651221217.

rs1456512212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:80055171 (GRCh38)
4:80976325 (GRCh37)
Canonical SPDI:: NC_000004.12:80055170:G:A,NC_000004.12:80055170:G:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.80055171G>A, NC_000004.12:g.80055171G>C, NC_000004.11:g.80976325G>A, NC_000004.11:g.80976325G>C, NG_015987.1:g.23153C>T, NG_015987.1:g.23153C>G, NM_058172.6:c.534C>T, NM_058172.6:c.534C>G, NM_058172.5:c.534C>T, NM_058172.5:c.534C>G, NM_001286781.2:c.303C>T, NM_001286781.2:c.303C>G, NM_001286781.1:c.303C>T, NM_001286781.1:c.303C>G, NM_001286780.2:c.303C>T, NM_001286780.2:c.303C>G, NM_001286780.1:c.303C>T, NM_001286780.1:c.303C>G, NM_001145794.2:c.534C>T, NM_001145794.2:c.534C>G, NM_001145794.1:c.534C>T, NM_001145794.1:c.534C>G

Select item 145311215018.

rs1453112150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:80055454 (GRCh38)
4:80976608 (GRCh37)
Canonical SPDI:: NC_000004.12:80055453:A:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.80055454A>T, NC_000004.11:g.80976608A>T, NG_015987.1:g.22870T>A, NM_058172.6:c.392T>A, NM_058172.5:c.392T>A, NM_001286781.2:c.161T>A, NM_001286781.1:c.161T>A, NM_001286780.2:c.161T>A, NM_001286780.1:c.161T>A, NM_001145794.2:c.392T>A, NM_001145794.1:c.392T>A, NP_477520.2:p.Ile131Asn, NP_001273710.1:p.Ile54Asn, NP_001273709.1:p.Ile54Asn, NP_001139266.1:p.Ile131Asn

Select item 145291862819.

rs1452918628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:79978076 (GRCh38)
4:80899230 (GRCh37)
Canonical SPDI:: NC_000004.12:79978075:G:A,NC_000004.12:79978075:G:C
Gene:: ANTXR2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.79978076G>A, NC_000004.12:g.79978076G>C, NC_000004.11:g.80899230G>A, NC_000004.11:g.80899230G>C, NG_015987.1:g.100248C>T, NG_015987.1:g.100248C>G, NM_058172.6:c.1278C>T, NM_058172.6:c.1278C>G, NM_058172.5:c.1278C>T, NM_058172.5:c.1278C>G, NM_001286781.2:c.1047C>T, NM_001286781.2:c.1047C>G, NM_001286781.1:c.1047C>T, NM_001286781.1:c.1047C>G, NM_001286780.2:c.1047C>T, NM_001286780.2:c.1047C>G, NM_001286780.1:c.1047C>T, NM_001286780.1:c.1047C>G, NM_001145794.2:c.1278C>T, NM_001145794.2:c.1278C>G, NM_001145794.1:c.1278C>T, NM_001145794.1:c.1278C>G, NP_477520.2:p.Ile426Met, NP_001273710.1:p.Ile349Met, NP_001273709.1:p.Ile349Met, NP_001139266.1:p.Ile426Met

Select item 145138907720.

rs1451389077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:80035973 (GRCh38)
4:80957127 (GRCh37)
Canonical SPDI:: NC_000004.12:80035972:C:T
Gene:: ANTXR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.80035973C>T, NC_000004.11:g.80957127C>T, NG_015987.1:g.42351G>A, NM_058172.6:c.696G>A, NM_058172.5:c.696G>A, NM_001286781.2:c.465G>A, NM_001286781.1:c.465G>A, NM_001286780.2:c.465G>A, NM_001286780.1:c.465G>A, NM_001145794.2:c.696G>A, NM_001145794.1:c.696G>A

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