SNP Links for Protein (Select 153266878) - SNP

Links from Protein

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Select item 14893579881.

rs1489357988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:165770540 (GRCh38)
2:166627050 (GRCh37)
Canonical SPDI:: NC_000002.12:165770539:C:T
Gene:: GALNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165770540C>T, NC_000002.11:g.166627050C>T, NG_012069.1:g.28754G>A, NM_004482.4:c.161G>A, NM_004482.3:c.161G>A, XM_005246449.2:c.161G>A, XM_005246449.1:c.161G>A, XM_017003770.2:c.161G>A, XM_017003770.1:c.161G>A, XM_011510929.2:c.161G>A, XM_011510929.1:c.161G>A, XM_047443883.1:c.161G>A, NP_004473.2:p.Arg54Lys, XP_005246506.1:p.Arg54Lys, XP_016859259.1:p.Arg54Lys, XP_011509231.1:p.Arg54Lys, XP_047299839.1:p.Arg54Lys

Select item 14876967872.

rs1487696787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165764980 (GRCh38)
2:166621490 (GRCh37)
Canonical SPDI:: NC_000002.12:165764979:A:G
Gene:: GALNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165764980A>G, NC_000002.11:g.166621490A>G, NG_012069.1:g.34314T>C, NM_004482.4:c.592T>C, NM_004482.3:c.592T>C, XM_005246449.2:c.592T>C, XM_005246449.1:c.592T>C, XM_017003770.2:c.592T>C, XM_017003770.1:c.592T>C, XM_011510929.2:c.592T>C, XM_011510929.1:c.592T>C, XM_047443883.1:c.592T>C, NP_004473.2:p.Trp198Arg, XP_005246506.1:p.Trp198Arg, XP_016859259.1:p.Trp198Arg, XP_011509231.1:p.Trp198Arg, XP_047299839.1:p.Trp198Arg

Select item 14873288183.

rs1487328818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:165748861 (GRCh38)
2:166605371 (GRCh37)
Canonical SPDI:: NC_000002.12:165748860:C:T
Gene:: GALNT3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165748861C>T, NC_000002.11:g.166605371C>T, NG_012069.1:g.50433G>A, NM_004482.4:c.1822G>A, NM_004482.3:c.1822G>A, XM_005246449.2:c.1822G>A, XM_005246449.1:c.1822G>A, XM_017003770.2:c.1822G>A, XM_017003770.1:c.1822G>A, XM_011510929.2:c.1822G>A, XM_011510929.1:c.1822G>A, NP_004473.2:p.Ala608Thr, XP_005246506.1:p.Ala608Thr, XP_016859259.1:p.Ala608Thr, XP_011509231.1:p.Ala608Thr

Select item 14832547154.

rs1483254715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:165770334 (GRCh38)
2:166626844 (GRCh37)
Canonical SPDI:: NC_000002.12:165770333:C:A,NC_000002.12:165770333:C:T
Gene:: GALNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.165770334C>A, NC_000002.12:g.165770334C>T, NC_000002.11:g.166626844C>A, NC_000002.11:g.166626844C>T, NG_012069.1:g.28960G>T, NG_012069.1:g.28960G>A, NM_004482.4:c.367G>T, NM_004482.4:c.367G>A, NM_004482.3:c.367G>T, NM_004482.3:c.367G>A, XM_005246449.2:c.367G>T, XM_005246449.2:c.367G>A, XM_005246449.1:c.367G>T, XM_005246449.1:c.367G>A, XM_017003770.2:c.367G>T, XM_017003770.2:c.367G>A, XM_017003770.1:c.367G>T, XM_017003770.1:c.367G>A, XM_011510929.2:c.367G>T, XM_011510929.2:c.367G>A, XM_011510929.1:c.367G>T, XM_011510929.1:c.367G>A, XM_047443883.1:c.367G>T, XM_047443883.1:c.367G>A, NP_004473.2:p.Ala123Ser, NP_004473.2:p.Ala123Thr, XP_005246506.1:p.Ala123Ser, XP_005246506.1:p.Ala123Thr, XP_016859259.1:p.Ala123Ser, XP_016859259.1:p.Ala123Thr, XP_011509231.1:p.Ala123Ser, XP_011509231.1:p.Ala123Thr, XP_047299839.1:p.Ala123Ser, XP_047299839.1:p.Ala123Thr

Select item 14826057085.

rs1482605708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:165761915 (GRCh38)
2:166618425 (GRCh37)
Canonical SPDI:: NC_000002.12:165761914:T:G
Gene:: GALNT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165761915T>G, NC_000002.11:g.166618425T>G, NG_012069.1:g.37379A>C, NM_004482.4:c.828A>C, NM_004482.3:c.828A>C, XM_005246449.2:c.828A>C, XM_005246449.1:c.828A>C, XM_017003770.2:c.828A>C, XM_017003770.1:c.828A>C, XM_011510929.2:c.828A>C, XM_011510929.1:c.828A>C, XM_047443883.1:c.828A>C, NP_004473.2:p.Leu276Phe, XP_005246506.1:p.Leu276Phe, XP_016859259.1:p.Leu276Phe, XP_011509231.1:p.Leu276Phe, XP_047299839.1:p.Leu276Phe

Select item 14808308726.

rs1480830872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:165754973 (GRCh38)
2:166611483 (GRCh37)
Canonical SPDI:: NC_000002.12:165754972:C:G
Gene:: GALNT3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165754973C>G, NC_000002.11:g.166611483C>G, NG_012069.1:g.44321G>C, NM_004482.4:c.1483G>C, NM_004482.3:c.1483G>C, XM_005246449.2:c.1483G>C, XM_005246449.1:c.1483G>C, XM_017003770.2:c.1483G>C, XM_017003770.1:c.1483G>C, XM_011510929.2:c.1483G>C, XM_011510929.1:c.1483G>C, NP_004473.2:p.Glu495Gln, XP_005246506.1:p.Glu495Gln, XP_016859259.1:p.Glu495Gln, XP_011509231.1:p.Glu495Gln

Select item 14803881707.

rs1480388170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:165755039 (GRCh38)
2:166611549 (GRCh37)
Canonical SPDI:: NC_000002.12:165755038:T:C
Gene:: GALNT3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165755039T>C, NC_000002.11:g.166611549T>C, NG_012069.1:g.44255A>G, NM_004482.4:c.1417A>G, NM_004482.3:c.1417A>G, XM_005246449.2:c.1417A>G, XM_005246449.1:c.1417A>G, XM_017003770.2:c.1417A>G, XM_017003770.1:c.1417A>G, XM_011510929.2:c.1417A>G, XM_011510929.1:c.1417A>G, NP_004473.2:p.Arg473Gly, XP_005246506.1:p.Arg473Gly, XP_016859259.1:p.Arg473Gly, XP_011509231.1:p.Arg473Gly

Select item 14762319268.

rs1476231926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:165765030 (GRCh38)
2:166621540 (GRCh37)
Canonical SPDI:: NC_000002.12:165765029:C:T
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.165765030C>T, NC_000002.11:g.166621540C>T, NG_012069.1:g.34264G>A, NM_004482.4:c.542G>A, NM_004482.3:c.542G>A, XM_005246449.2:c.542G>A, XM_005246449.1:c.542G>A, XM_017003770.2:c.542G>A, XM_017003770.1:c.542G>A, XM_011510929.2:c.542G>A, XM_011510929.1:c.542G>A, XM_047443883.1:c.542G>A, NP_004473.2:p.Cys181Tyr, XP_005246506.1:p.Cys181Tyr, XP_016859259.1:p.Cys181Tyr, XP_011509231.1:p.Cys181Tyr, XP_047299839.1:p.Cys181Tyr

Select item 14759209219.

rs1475920921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:165749755 (GRCh38)
2:166606265 (GRCh37)
Canonical SPDI:: NC_000002.12:165749754:C:G,NC_000002.12:165749754:C:T
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165749755C>G, NC_000002.12:g.165749755C>T, NC_000002.11:g.166606265C>G, NC_000002.11:g.166606265C>T, NG_012069.1:g.49539G>C, NG_012069.1:g.49539G>A, NM_004482.4:c.1766G>C, NM_004482.4:c.1766G>A, NM_004482.3:c.1766G>C, NM_004482.3:c.1766G>A, XM_005246449.2:c.1766G>C, XM_005246449.2:c.1766G>A, XM_005246449.1:c.1766G>C, XM_005246449.1:c.1766G>A, XM_017003770.2:c.1766G>C, XM_017003770.2:c.1766G>A, XM_017003770.1:c.1766G>C, XM_017003770.1:c.1766G>A, XM_011510929.2:c.1766G>C, XM_011510929.2:c.1766G>A, XM_011510929.1:c.1766G>C, XM_011510929.1:c.1766G>A, NP_004473.2:p.Trp589Ser, NP_004473.2:p.Trp589Ter, XP_005246506.1:p.Trp589Ser, XP_005246506.1:p.Trp589Ter, XP_016859259.1:p.Trp589Ser, XP_016859259.1:p.Trp589Ter, XP_011509231.1:p.Trp589Ser, XP_011509231.1:p.Trp589Ter

Select item 147526179810.

rs1475261798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165770431 (GRCh38)
2:166626941 (GRCh37)
Canonical SPDI:: NC_000002.12:165770430:A:G
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165770431A>G, NC_000002.11:g.166626941A>G, NG_012069.1:g.28863T>C, NM_004482.4:c.270T>C, NM_004482.3:c.270T>C, XM_005246449.2:c.270T>C, XM_005246449.1:c.270T>C, XM_017003770.2:c.270T>C, XM_017003770.1:c.270T>C, XM_011510929.2:c.270T>C, XM_011510929.1:c.270T>C, XM_047443883.1:c.270T>C

Select item 147493482011.

rs1474934820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:165754710 (GRCh38)
2:166611220 (GRCh37)
Canonical SPDI:: NC_000002.12:165754709:G:A,NC_000002.12:165754709:G:C
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.165754710G>A, NC_000002.12:g.165754710G>C, NC_000002.11:g.166611220G>A, NC_000002.11:g.166611220G>C, NG_012069.1:g.44584C>T, NG_012069.1:g.44584C>G, NM_004482.4:c.1543C>T, NM_004482.4:c.1543C>G, NM_004482.3:c.1543C>T, NM_004482.3:c.1543C>G, XM_005246449.2:c.1543C>T, XM_005246449.2:c.1543C>G, XM_005246449.1:c.1543C>T, XM_005246449.1:c.1543C>G, XM_017003770.2:c.1543C>T, XM_017003770.2:c.1543C>G, XM_017003770.1:c.1543C>T, XM_017003770.1:c.1543C>G, XM_011510929.2:c.1543C>T, XM_011510929.2:c.1543C>G, XM_011510929.1:c.1543C>T, XM_011510929.1:c.1543C>G, NP_004473.2:p.Pro515Ser, NP_004473.2:p.Pro515Ala, XP_005246506.1:p.Pro515Ser, XP_005246506.1:p.Pro515Ala, XP_016859259.1:p.Pro515Ser, XP_016859259.1:p.Pro515Ala, XP_011509231.1:p.Pro515Ser, XP_011509231.1:p.Pro515Ala

Select item 147482377712.

rs1474823777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:165770347 (GRCh38)
2:166626857 (GRCh37)
Canonical SPDI:: NC_000002.12:165770346:T:C
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165770347T>C, NC_000002.11:g.166626857T>C, NG_012069.1:g.28947A>G, NM_004482.4:c.354A>G, NM_004482.3:c.354A>G, XM_005246449.2:c.354A>G, XM_005246449.1:c.354A>G, XM_017003770.2:c.354A>G, XM_017003770.1:c.354A>G, XM_011510929.2:c.354A>G, XM_011510929.1:c.354A>G, XM_047443883.1:c.354A>G

Select item 147384159513.

rs1473841595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:165765004 (GRCh38)
2:166621514 (GRCh37)
Canonical SPDI:: NC_000002.12:165765003:T:C,NC_000002.12:165765003:T:G
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165765004T>C, NC_000002.12:g.165765004T>G, NC_000002.11:g.166621514T>C, NC_000002.11:g.166621514T>G, NG_012069.1:g.34290A>G, NG_012069.1:g.34290A>C, NM_004482.4:c.568A>G, NM_004482.4:c.568A>C, NM_004482.3:c.568A>G, NM_004482.3:c.568A>C, XM_005246449.2:c.568A>G, XM_005246449.2:c.568A>C, XM_005246449.1:c.568A>G, XM_005246449.1:c.568A>C, XM_017003770.2:c.568A>G, XM_017003770.2:c.568A>C, XM_017003770.1:c.568A>G, XM_017003770.1:c.568A>C, XM_011510929.2:c.568A>G, XM_011510929.2:c.568A>C, XM_011510929.1:c.568A>G, XM_011510929.1:c.568A>C, XM_047443883.1:c.568A>G, XM_047443883.1:c.568A>C, NP_004473.2:p.Ile190Val, NP_004473.2:p.Ile190Leu, XP_005246506.1:p.Ile190Val, XP_005246506.1:p.Ile190Leu, XP_016859259.1:p.Ile190Val, XP_016859259.1:p.Ile190Leu, XP_011509231.1:p.Ile190Val, XP_011509231.1:p.Ile190Leu, XP_047299839.1:p.Ile190Val, XP_047299839.1:p.Ile190Leu

Select item 147181912914.

rs1471819129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:165759339 (GRCh38)
2:166615849 (GRCh37)
Canonical SPDI:: NC_000002.12:165759338:A:T
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165759339A>T, NC_000002.11:g.166615849A>T, NG_012069.1:g.39955T>A, NM_004482.4:c.1070T>A, NM_004482.3:c.1070T>A, XM_005246449.2:c.1070T>A, XM_005246449.1:c.1070T>A, XM_017003770.2:c.1070T>A, XM_017003770.1:c.1070T>A, XM_011510929.2:c.1070T>A, XM_011510929.1:c.1070T>A, XM_047443883.1:c.1070T>A, NP_004473.2:p.Ile357Asn, XP_005246506.1:p.Ile357Asn, XP_016859259.1:p.Ile357Asn, XP_011509231.1:p.Ile357Asn, XP_047299839.1:p.Ile357Asn

Select item 147035967615.

rs1470359676 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:165759456 (GRCh38)
2:166615966 (GRCh37)
Canonical SPDI:: NC_000002.12:165759454:TTT:T
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165759456_165759457del, NC_000002.11:g.166615966_166615967del, NG_012069.1:g.39838_39839del, NM_004482.4:c.953_954del, NM_004482.3:c.953_954del, XM_005246449.2:c.953_954del, XM_005246449.1:c.953_954del, XM_017003770.2:c.953_954del, XM_017003770.1:c.953_954del, XM_011510929.2:c.953_954del, XM_011510929.1:c.953_954del, XM_047443883.1:c.953_954del, NP_004473.2:p.Lys318fs, XP_005246506.1:p.Lys318fs, XP_016859259.1:p.Lys318fs, XP_011509231.1:p.Lys318fs, XP_047299839.1:p.Lys318fs

Select item 146972308616.

rs1469723086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165748821 (GRCh38)
2:166605331 (GRCh37)
Canonical SPDI:: NC_000002.12:165748820:G:A
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165748821G>A, NC_000002.11:g.166605331G>A, NG_012069.1:g.50473C>T, NM_004482.4:c.1862C>T, NM_004482.3:c.1862C>T, XM_005246449.2:c.1862C>T, XM_005246449.1:c.1862C>T, XM_017003770.2:c.1862C>T, XM_017003770.1:c.1862C>T, XM_011510929.2:c.1862C>T, XM_011510929.1:c.1862C>T, NP_004473.2:p.Ser621Leu, XP_005246506.1:p.Ser621Leu, XP_016859259.1:p.Ser621Leu, XP_011509231.1:p.Ser621Leu

Select item 146955178317.

rs1469551783 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 2:165754986 (GRCh38)
2:166611496 (GRCh37)
Canonical SPDI:: NC_000002.12:165754981:TGTTGTT:TGTT
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TGTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165754983GTT[1], NC_000002.11:g.166611493GTT[1], NG_012069.1:g.44307ACA[1], NM_004482.4:c.1469ACA[1], NM_004482.3:c.1469ACA[1], XM_005246449.2:c.1469ACA[1], XM_005246449.1:c.1469ACA[1], XM_017003770.2:c.1469ACA[1], XM_017003770.1:c.1469ACA[1], XM_011510929.2:c.1469ACA[1], XM_011510929.1:c.1469ACA[1], NP_004473.2:p.Asn491del, XP_005246506.1:p.Asn491del, XP_016859259.1:p.Asn491del, XP_011509231.1:p.Asn491del

Select item 146764731018.

rs1467647310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:165754998 (GRCh38)
2:166611508 (GRCh37)
Canonical SPDI:: NC_000002.12:165754997:T:C
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165754998T>C, NC_000002.11:g.166611508T>C, NG_012069.1:g.44296A>G, NM_004482.4:c.1458A>G, NM_004482.3:c.1458A>G, XM_005246449.2:c.1458A>G, XM_005246449.1:c.1458A>G, XM_017003770.2:c.1458A>G, XM_017003770.1:c.1458A>G, XM_011510929.2:c.1458A>G, XM_011510929.1:c.1458A>G

Select item 146690690519.

rs1466906905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165765017 (GRCh38)
2:166621527 (GRCh37)
Canonical SPDI:: NC_000002.12:165765016:G:A
Gene:: GALNT3 (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_000002.12:g.165765017G>A, NC_000002.11:g.166621527G>A, NG_012069.1:g.34277C>T, NM_004482.4:c.555C>T, NM_004482.3:c.555C>T, XM_005246449.2:c.555C>T, XM_005246449.1:c.555C>T, XM_017003770.2:c.555C>T, XM_017003770.1:c.555C>T, XM_011510929.2:c.555C>T, XM_011510929.1:c.555C>T, XM_047443883.1:c.555C>T

Select item 146577197020.

rs1465771970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:165757062 (GRCh38)
2:166613572 (GRCh37)
Canonical SPDI:: NC_000002.12:165757061:T:G
Gene:: GALNT3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165757062T>G, NC_000002.11:g.166613572T>G, NG_012069.1:g.42232A>C, NM_004482.4:c.1377A>C, NM_004482.3:c.1377A>C, XM_005246449.2:c.1377A>C, XM_005246449.1:c.1377A>C, XM_017003770.2:c.1377A>C, XM_017003770.1:c.1377A>C, XM_011510929.2:c.1377A>C, XM_011510929.1:c.1377A>C, XM_047443883.1:c.*106A>C

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