SNP Links for Protein (Select 31982921) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212951563 (GRCh38)
1:213124905 (GRCh37)
Canonical SPDI:: NC_000001.11:212951562:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212951563C>T, NC_000001.10:g.213124905C>T, NM_024749.5:c.21C>T, NM_024749.4:c.21C>T, NM_024749.3:c.21C>T, NM_001301056.2:c.21C>T, NM_001301056.1:c.21C>T

Select item 147190105110.

rs1471901051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:212951736 (GRCh38)
1:213125078 (GRCh37)
Canonical SPDI:: NC_000001.11:212951735:G:T
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212951736G>T, NC_000001.10:g.213125078G>T, NM_024749.5:c.194G>T, NM_024749.4:c.194G>T, NM_024749.3:c.194G>T, NM_001136474.3:c.-2G>T, NM_001136474.2:c.-2G>T, NM_001136474.1:c.-2G>T, NM_001301056.2:c.194G>T, NM_001301056.1:c.194G>T, NP_079025.2:p.Arg65Leu, NP_001287985.1:p.Arg65Leu

Select item 147097348011.

rs1470973480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212972891 (GRCh38)
1:213146233 (GRCh37)
Canonical SPDI:: NC_000001.11:212972890:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212972891A>G, NC_000001.10:g.213146233A>G, NM_024749.5:c.677A>G, NM_024749.4:c.677A>G, NM_024749.3:c.677A>G, NM_001136474.3:c.614A>G, NM_001136474.2:c.614A>G, NM_001136474.1:c.614A>G, NM_001136475.3:c.497A>G, NM_001136475.2:c.497A>G, NM_001136475.1:c.497A>G, NM_001301056.2:c.809A>G, NM_001301056.1:c.809A>G, NP_079025.2:p.Asn226Ser, NP_001129946.1:p.Asn205Ser, NP_001129947.1:p.Asn166Ser, NP_001287985.1:p.Asn270Ser

Select item 146640175812.

rs1466401758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212972598 (GRCh38)
1:213145940 (GRCh37)
Canonical SPDI:: NC_000001.11:212972597:G:A
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.212972598G>A, NC_000001.10:g.213145940G>A, NM_024749.5:c.384G>A, NM_024749.4:c.384G>A, NM_024749.3:c.384G>A, NM_001136474.3:c.321G>A, NM_001136474.2:c.321G>A, NM_001136474.1:c.321G>A, NM_001136475.3:c.204G>A, NM_001136475.2:c.204G>A, NM_001136475.1:c.204G>A, NM_001301056.2:c.516G>A, NM_001301056.1:c.516G>A

Select item 146635852413.

rs1466358524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:212951749 (GRCh38)
1:213125091 (GRCh37)
Canonical SPDI:: NC_000001.11:212951748:C:A,NC_000001.11:212951748:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.212951749C>A, NC_000001.11:g.212951749C>T, NC_000001.10:g.213125091C>A, NC_000001.10:g.213125091C>T, NM_024749.5:c.207C>A, NM_024749.5:c.207C>T, NM_024749.4:c.207C>A, NM_024749.4:c.207C>T, NM_024749.3:c.207C>A, NM_024749.3:c.207C>T, NM_001136474.3:c.12C>A, NM_001136474.3:c.12C>T, NM_001136474.2:c.12C>A, NM_001136474.2:c.12C>T, NM_001136474.1:c.12C>A, NM_001136474.1:c.12C>T, NM_001301056.2:c.207C>A, NM_001301056.2:c.207C>T, NM_001301056.1:c.207C>A, NM_001301056.1:c.207C>T, NP_079025.2:p.His69Gln, NP_001129946.1:p.His4Gln, NP_001287985.1:p.His69Gln

Select item 145972256314.

rs1459722563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212972873 (GRCh38)
1:213146215 (GRCh37)
Canonical SPDI:: NC_000001.11:212972872:G:A
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212972873G>A, NC_000001.10:g.213146215G>A, NM_024749.5:c.659G>A, NM_024749.4:c.659G>A, NM_024749.3:c.659G>A, NM_001136474.3:c.596G>A, NM_001136474.2:c.596G>A, NM_001136474.1:c.596G>A, NM_001136475.3:c.479G>A, NM_001136475.2:c.479G>A, NM_001136475.1:c.479G>A, NM_001301056.2:c.791G>A, NM_001301056.1:c.791G>A, NP_079025.2:p.Trp220Ter, NP_001129946.1:p.Trp199Ter, NP_001129947.1:p.Trp160Ter, NP_001287985.1:p.Trp264Ter

Select item 145733343215.

rs1457333432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212972791 (GRCh38)
1:213146133 (GRCh37)
Canonical SPDI:: NC_000001.11:212972790:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212972791A>G, NC_000001.10:g.213146133A>G, NM_024749.5:c.577A>G, NM_024749.4:c.577A>G, NM_024749.3:c.577A>G, NM_001136474.3:c.514A>G, NM_001136474.2:c.514A>G, NM_001136474.1:c.514A>G, NM_001136475.3:c.397A>G, NM_001136475.2:c.397A>G, NM_001136475.1:c.397A>G, NM_001301056.2:c.709A>G, NM_001301056.1:c.709A>G, NP_079025.2:p.Lys193Glu, NP_001129946.1:p.Lys172Glu, NP_001129947.1:p.Lys133Glu, NP_001287985.1:p.Lys237Glu

Select item 145724568516.

rs1457245685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212951780 (GRCh38)
1:213125122 (GRCh37)
Canonical SPDI:: NC_000001.11:212951779:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212951780A>G, NC_000001.10:g.213125122A>G, NM_024749.5:c.238A>G, NM_024749.4:c.238A>G, NM_024749.3:c.238A>G, NM_001136474.3:c.43A>G, NM_001136474.2:c.43A>G, NM_001136474.1:c.43A>G, NM_001301056.2:c.238A>G, NM_001301056.1:c.238A>G, NP_079025.2:p.Met80Val, NP_001129946.1:p.Met15Val, NP_001287985.1:p.Met80Val

Select item 144845073717.

rs1448450737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212974056 (GRCh38)
1:213147398 (GRCh37)
Canonical SPDI:: NC_000001.11:212974055:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212974056C>T, NC_000001.10:g.213147398C>T, NM_024749.5:c.849C>T, NM_024749.4:c.849C>T, NM_024749.3:c.849C>T, NM_001136474.3:c.786C>T, NM_001136474.2:c.786C>T, NM_001136474.1:c.786C>T, NM_001136475.3:c.669C>T, NM_001136475.2:c.669C>T, NM_001136475.1:c.669C>T, NM_001301056.2:c.981C>T, NM_001301056.1:c.981C>T

Select item 144395563918.

rs1443955639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212973965 (GRCh38)
1:213147307 (GRCh37)
Canonical SPDI:: NC_000001.11:212973964:C:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212973965C>G, NC_000001.10:g.213147307C>G, NM_024749.5:c.758C>G, NM_024749.4:c.758C>G, NM_024749.3:c.758C>G, NM_001136474.3:c.695C>G, NM_001136474.2:c.695C>G, NM_001136474.1:c.695C>G, NM_001136475.3:c.578C>G, NM_001136475.2:c.578C>G, NM_001136475.1:c.578C>G, NM_001301056.2:c.890C>G, NM_001301056.1:c.890C>G, NP_079025.2:p.Pro253Arg, NP_001129946.1:p.Pro232Arg, NP_001129947.1:p.Pro193Arg, NP_001287985.1:p.Pro297Arg

Select item 144279907919.

rs1442799079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212972903 (GRCh38)
1:213146245 (GRCh37)
Canonical SPDI:: NC_000001.11:212972902:T:C
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212972903T>C, NC_000001.10:g.213146245T>C, NM_024749.5:c.689T>C, NM_024749.4:c.689T>C, NM_024749.3:c.689T>C, NM_001136474.3:c.626T>C, NM_001136474.2:c.626T>C, NM_001136474.1:c.626T>C, NM_001136475.3:c.509T>C, NM_001136475.2:c.509T>C, NM_001136475.1:c.509T>C, NM_001301056.2:c.821T>C, NM_001301056.1:c.821T>C, NP_079025.2:p.Met230Thr, NP_001129946.1:p.Met209Thr, NP_001129947.1:p.Met170Thr, NP_001287985.1:p.Met274Thr

Select item 143501421820.

rs1435014218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212961252 (GRCh38)
1:213134594 (GRCh37)
Canonical SPDI:: NC_000001.11:212961251:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212961252A>G, NC_000001.10:g.213134594A>G, NM_024749.5:c.363A>G, NM_024749.4:c.363A>G, NM_024749.3:c.363A>G, NM_001136474.3:c.168A>G, NM_001136474.2:c.168A>G, NM_001136474.1:c.168A>G, NM_001136475.3:c.51A>G, NM_001136475.2:c.51A>G, NM_001136475.1:c.51A>G, NM_001301056.2:c.363A>G, NM_001301056.1:c.363A>G

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