SNP Links for Protein (Select 71361647) - SNP

Links from Protein

Items: 1 to 20 of 326

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Select item 14883399901.

rs1488339990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53266897 (GRCh38)
19:53770150 (GRCh37)
Canonical SPDI:: NC_000019.10:53266896:C:T
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53266897C>T, NC_000019.9:g.53770150C>T, NM_173857.3:c.769G>A, NM_173857.2:c.769G>A, NP_776256.2:p.Ala257Thr

Select item 14861696532.

rs1486169653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53267107 (GRCh38)
19:53770360 (GRCh37)
Canonical SPDI:: NC_000019.10:53267106:G:A
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53267107G>A, NC_000019.9:g.53770360G>A, NM_173857.3:c.559C>T, NM_173857.2:c.559C>T, NP_776256.2:p.Pro187Ser

Select item 14852528823.

rs1485252882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53267034 (GRCh38)
19:53770287 (GRCh37)
Canonical SPDI:: NC_000019.10:53267033:T:C
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53267034T>C, NC_000019.9:g.53770287T>C, NM_173857.3:c.632A>G, NM_173857.2:c.632A>G, NP_776256.2:p.Gln211Arg

Select item 14838353464.

rs1483835346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53267106 (GRCh38)
19:53770359 (GRCh37)
Canonical SPDI:: NC_000019.10:53267105:G:A
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53267106G>A, NC_000019.9:g.53770359G>A, NM_173857.3:c.560C>T, NM_173857.2:c.560C>T, NP_776256.2:p.Pro187Leu

Select item 14821102615.

rs1482110261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53267591 (GRCh38)
19:53770844 (GRCh37)
Canonical SPDI:: NC_000019.10:53267590:A:G
Gene:: VN1R4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.53267591A>G, NC_000019.9:g.53770844A>G, NM_173857.3:c.75T>C, NM_173857.2:c.75T>C

Select item 14797943226.

rs1479794322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53267026 (GRCh38)
19:53770279 (GRCh37)
Canonical SPDI:: NC_000019.10:53267025:G:A
Gene:: VN1R4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53267026G>A, NC_000019.9:g.53770279G>A, NM_173857.3:c.640C>T, NM_173857.2:c.640C>T, NP_776256.2:p.Gln214Ter

Select item 14773690057.

rs1477369005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53267442 (GRCh38)
19:53770695 (GRCh37)
Canonical SPDI:: NC_000019.10:53267441:A:G
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53267442A>G, NC_000019.9:g.53770695A>G, NM_173857.3:c.224T>C, NM_173857.2:c.224T>C, NP_776256.2:p.Leu75Pro

Select item 14763712418.

rs1476371241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53267265 (GRCh38)
19:53770518 (GRCh37)
Canonical SPDI:: NC_000019.10:53267264:C:T
Gene:: VN1R4 (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=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53267265C>T, NC_000019.9:g.53770518C>T, NM_173857.3:c.401G>A, NM_173857.2:c.401G>A, NP_776256.2:p.Cys134Tyr

Select item 14751600599.

rs1475160059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53267377 (GRCh38)
19:53770630 (GRCh37)
Canonical SPDI:: NC_000019.10:53267376:T:G
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000019.10:g.53267377T>G, NC_000019.9:g.53770630T>G, NM_173857.3:c.289A>C, NM_173857.2:c.289A>C, NP_776256.2:p.Thr97Pro

Select item 147206245010.

rs1472062450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53267331 (GRCh38)
19:53770584 (GRCh37)
Canonical SPDI:: NC_000019.10:53267330:C:T
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.53267331C>T, NC_000019.9:g.53770584C>T, NM_173857.3:c.335G>A, NM_173857.2:c.335G>A, NP_776256.2:p.Arg112Lys

Select item 147146892211.

rs1471468922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53267533 (GRCh38)
19:53770786 (GRCh37)
Canonical SPDI:: NC_000019.10:53267532:T:A
Gene:: VN1R4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.53267533T>A, NC_000019.9:g.53770786T>A, NM_173857.3:c.133A>T, NM_173857.2:c.133A>T, NP_776256.2:p.Ile45Phe

Select item 146678966812.

rs1466789668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53267251 (GRCh38)
19:53770504 (GRCh37)
Canonical SPDI:: NC_000019.10:53267250:T:C
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53267251T>C, NC_000019.9:g.53770504T>C, NM_173857.3:c.415A>G, NM_173857.2:c.415A>G, NP_776256.2:p.Met139Val

Select item 146666752813.

rs1466667528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53266914 (GRCh38)
19:53770167 (GRCh37)
Canonical SPDI:: NC_000019.10:53266913:A:G
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.53266914A>G, NC_000019.9:g.53770167A>G, NM_173857.3:c.752T>C, NM_173857.2:c.752T>C, NP_776256.2:p.Leu251Pro

Select item 146080649914.

rs1460806499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:53266926 (GRCh38)
19:53770179 (GRCh37)
Canonical SPDI:: NC_000019.10:53266925:G:C,NC_000019.10:53266925:G:T
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53266926G>C, NC_000019.10:g.53266926G>T, NC_000019.9:g.53770179G>C, NC_000019.9:g.53770179G>T, NM_173857.3:c.740C>G, NM_173857.3:c.740C>A, NM_173857.2:c.740C>G, NM_173857.2:c.740C>A, NP_776256.2:p.Thr247Ser, NP_776256.2:p.Thr247Asn

Select item 146073353815.

rs1460733538 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:53267317 (GRCh38)
19:53770570 (GRCh37)
Canonical SPDI:: NC_000019.10:53267316:CCC:CC
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.53267319del, NC_000019.9:g.53770572del, NM_173857.3:c.349del, NM_173857.2:c.349del, NP_776256.2:p.Ala117fs

Select item 145966429516.

rs1459664295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53266974 (GRCh38)
19:53770227 (GRCh37)
Canonical SPDI:: NC_000019.10:53266973:G:C
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53266974G>C, NC_000019.9:g.53770227G>C, NM_173857.3:c.692C>G, NM_173857.2:c.692C>G, NP_776256.2:p.Ala231Gly

Select item 145719132417.

rs1457191324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53267173 (GRCh38)
19:53770426 (GRCh37)
Canonical SPDI:: NC_000019.10:53267172:C:A
Gene:: VN1R4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53267173C>A, NC_000019.9:g.53770426C>A, NM_173857.3:c.493G>T, NM_173857.2:c.493G>T, NP_776256.2:p.Gly165Ter

Select item 145222174318.

rs1452221743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53267199 (GRCh38)
19:53770452 (GRCh37)
Canonical SPDI:: NC_000019.10:53267198:G:A
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53267199G>A, NC_000019.9:g.53770452G>A, NM_173857.3:c.467C>T, NM_173857.2:c.467C>T, NP_776256.2:p.Thr156Ile

Select item 144695428619.

rs1446954286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53266822 (GRCh38)
19:53770075 (GRCh37)
Canonical SPDI:: NC_000019.10:53266821:G:A
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53266822G>A, NC_000019.9:g.53770075G>A, NM_173857.3:c.844C>T, NM_173857.2:c.844C>T, NP_776256.2:p.Pro282Ser

Select item 144686462920.

rs1446864629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53267434 (GRCh38)
19:53770687 (GRCh37)
Canonical SPDI:: NC_000019.10:53267433:G:T
Gene:: VN1R4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53267434G>T, NC_000019.9:g.53770687G>T, NM_173857.3:c.232C>A, NM_173857.2:c.232C>A, NP_776256.2:p.Leu78Ile

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