SNP Links for Protein (Select 94721252) - SNP

Links from Protein

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Select item 14868671951.

rs1486867195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9936136 (GRCh38)
18:9936133 (GRCh37)
Canonical SPDI:: NC_000018.10:9936135:C:T
Gene:: VAPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.9936136C>T, NC_000018.9:g.9936133C>T, NM_003574.6:c.259C>T, NM_003574.5:c.259C>T, NM_194434.3:c.259C>T, NM_194434.2:c.259C>T, XM_017026079.2:c.220C>T, XM_017026079.1:c.220C>T, XM_047437929.1:c.220C>T, XM_047437930.1:c.220C>T, XM_047437932.1:c.220C>T, XM_047437928.1:c.220C>T, XM_047437931.1:c.220C>T, NP_003565.4:p.Pro87Ser, NP_919415.2:p.Pro87Ser, XP_016881568.1:p.Pro74Ser, XP_047293885.1:p.Pro74Ser, XP_047293886.1:p.Pro74Ser, XP_047293888.1:p.Pro74Ser, XP_047293884.1:p.Pro74Ser, XP_047293887.1:p.Pro74Ser

Select item 14720213552.

rs1472021355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9931934 (GRCh38)
18:9931931 (GRCh37)
Canonical SPDI:: NC_000018.10:9931933:T:C
Gene:: VAPA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.9931934T>C, NC_000018.9:g.9931931T>C, NM_003574.6:c.204T>C, NM_003574.5:c.204T>C, NM_194434.3:c.204T>C, NM_194434.2:c.204T>C, XM_017026079.2:c.165T>C, XM_017026079.1:c.165T>C, XM_047437929.1:c.165T>C, XM_047437930.1:c.165T>C, XM_047437932.1:c.165T>C, XM_047437928.1:c.165T>C, XM_047437931.1:c.165T>C

Select item 14682392523.

rs1468239252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9950514 (GRCh38)
18:9950511 (GRCh37)
Canonical SPDI:: NC_000018.10:9950513:T:C
Gene:: VAPA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.9950514T>C, NC_000018.9:g.9950511T>C, NM_003574.6:c.672T>C, NM_003574.5:c.672T>C, NM_194434.3:c.537T>C, NM_194434.2:c.537T>C, XM_017026079.2:c.498T>C, XM_017026079.1:c.498T>C, XM_047437929.1:c.633T>C, XM_047437930.1:c.633T>C, XM_047437932.1:c.498T>C, XM_047437928.1:c.633T>C, XM_047437931.1:c.633T>C

Select item 14673021734.

rs1467302173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:9914308 (GRCh38)
18:9914305 (GRCh37)
Canonical SPDI:: NC_000018.10:9914307:G:A,NC_000018.10:9914307:G:C
Gene:: VAPA (Varview), LOC124904245 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9914308G>A, NC_000018.10:g.9914308G>C, NC_000018.9:g.9914305G>A, NC_000018.9:g.9914305G>C, NM_003574.6:c.52G>A, NM_003574.6:c.52G>C, NM_003574.5:c.52G>A, NM_003574.5:c.52G>C, NM_194434.3:c.52G>A, NM_194434.3:c.52G>C, NM_194434.2:c.52G>A, NM_194434.2:c.52G>C, NP_003565.4:p.Asp18Asn, NP_003565.4:p.Asp18His, NP_919415.2:p.Asp18Asn, NP_919415.2:p.Asp18His

Select item 14578236245.

rs1457823624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9914287 (GRCh38)
18:9914284 (GRCh37)
Canonical SPDI:: NC_000018.10:9914286:C:T
Gene:: VAPA (Varview), LOC124904245 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000018.10:g.9914287C>T, NC_000018.9:g.9914284C>T, NM_003574.6:c.31C>T, NM_003574.5:c.31C>T, NM_194434.3:c.31C>T, NM_194434.2:c.31C>T, NP_003565.4:p.His11Tyr, NP_919415.2:p.His11Tyr

Select item 14575720066.

rs1457572006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:9950441 (GRCh38)
18:9950438 (GRCh37)
Canonical SPDI:: NC_000018.10:9950440:A:C
Gene:: VAPA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000018.10:g.9950441A>C, NC_000018.9:g.9950438A>C, NM_003574.6:c.599A>C, NM_003574.5:c.599A>C, NM_194434.3:c.464A>C, NM_194434.2:c.464A>C, XM_017026079.2:c.425A>C, XM_017026079.1:c.425A>C, XM_047437929.1:c.560A>C, XM_047437930.1:c.560A>C, XM_047437932.1:c.425A>C, XM_047437928.1:c.560A>C, XM_047437931.1:c.560A>C, NP_003565.4:p.Gln200Pro, NP_919415.2:p.Gln155Pro, XP_016881568.1:p.Gln142Pro, XP_047293885.1:p.Gln187Pro, XP_047293886.1:p.Gln187Pro, XP_047293888.1:p.Gln142Pro, XP_047293884.1:p.Gln187Pro, XP_047293887.1:p.Gln187Pro

Select item 14552746847.

rs1455274684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9937046 (GRCh38)
18:9937043 (GRCh37)
Canonical SPDI:: NC_000018.10:9937045:C:T
Gene:: VAPA (Varview)
Functional Consequence:: 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_000018.10:g.9937046C>T, NC_000018.9:g.9937043C>T, NM_003574.6:c.397C>T, NM_003574.5:c.397C>T, NM_194434.3:c.397C>T, NM_194434.2:c.397C>T, XM_017026079.2:c.358C>T, XM_017026079.1:c.358C>T, XM_047437929.1:c.358C>T, XM_047437930.1:c.358C>T, XM_047437932.1:c.358C>T, XM_047437928.1:c.358C>T, XM_047437931.1:c.358C>T, NP_003565.4:p.Pro133Ser, NP_919415.2:p.Pro133Ser, XP_016881568.1:p.Pro120Ser, XP_047293885.1:p.Pro120Ser, XP_047293886.1:p.Pro120Ser, XP_047293888.1:p.Pro120Ser, XP_047293884.1:p.Pro120Ser, XP_047293887.1:p.Pro120Ser

Select item 14531761298.

rs1453176129 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 18:9954155 (GRCh38)
18:9954152 (GRCh37)
Canonical SPDI:: NC_000018.10:9954151:CTTCTT:CTT
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9954152CTT[1], NC_000018.9:g.9954149CTT[1], NM_003574.6:c.826CTT[1], NM_003574.5:c.826CTT[1], NM_194434.3:c.691CTT[1], NM_194434.2:c.691CTT[1], XM_017026079.2:c.652CTT[1], XM_017026079.1:c.652CTT[1], XM_047437929.1:c.787CTT[1], XM_047437930.1:c.787CTT[1], XM_047437932.1:c.652CTT[1], XM_047437928.1:c.787CTT[1], XM_047437931.1:c.787CTT[1], NP_003565.4:p.Leu277del, NP_919415.2:p.Leu232del, XP_016881568.1:p.Leu219del, XP_047293885.1:p.Leu264del, XP_047293886.1:p.Leu264del, XP_047293888.1:p.Leu219del, XP_047293884.1:p.Leu264del, XP_047293887.1:p.Leu264del

Select item 14491898209.

rs1449189820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:9914328 (GRCh38)
18:9914325 (GRCh37)
Canonical SPDI:: NC_000018.10:9914327:A:C,NC_000018.10:9914327:A:G
Gene:: VAPA (Varview), LOC124904245 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.9914328A>C, NC_000018.10:g.9914328A>G, NC_000018.9:g.9914325A>C, NC_000018.9:g.9914325A>G, NM_003574.6:c.72A>C, NM_003574.6:c.72A>G, NM_003574.5:c.72A>C, NM_003574.5:c.72A>G, NM_194434.3:c.72A>C, NM_194434.3:c.72A>G, NM_194434.2:c.72A>C, NM_194434.2:c.72A>G, NP_003565.4:p.Lys24Asn, NP_919415.2:p.Lys24Asn

Select item 144487526310.

rs1444875263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:9954205 (GRCh38)
18:9954202 (GRCh37)
Canonical SPDI:: NC_000018.10:9954204:C:G
Gene:: VAPA (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=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9954205C>G, NC_000018.9:g.9954202C>G, NM_003574.6:c.879C>G, NM_003574.5:c.879C>G, NM_194434.3:c.744C>G, NM_194434.2:c.744C>G, XM_017026079.2:c.705C>G, XM_017026079.1:c.705C>G, XM_047437929.1:c.840C>G, XM_047437930.1:c.840C>G, XM_047437932.1:c.705C>G, XM_047437928.1:c.840C>G, XM_047437931.1:c.840C>G, NP_003565.4:p.Ile293Met, NP_919415.2:p.Ile248Met, XP_016881568.1:p.Ile235Met, XP_047293885.1:p.Ile280Met, XP_047293886.1:p.Ile280Met, XP_047293888.1:p.Ile235Met, XP_047293884.1:p.Ile280Met, XP_047293887.1:p.Ile280Met

Select item 142888076211.

rs1428880762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9950434 (GRCh38)
18:9950431 (GRCh37)
Canonical SPDI:: NC_000018.10:9950433:T:C
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.9950434T>C, NC_000018.9:g.9950431T>C, NM_003574.6:c.592T>C, NM_003574.5:c.592T>C, NM_194434.3:c.457T>C, NM_194434.2:c.457T>C, XM_017026079.2:c.418T>C, XM_017026079.1:c.418T>C, XM_047437929.1:c.553T>C, XM_047437930.1:c.553T>C, XM_047437932.1:c.418T>C, XM_047437928.1:c.553T>C, XM_047437931.1:c.553T>C, NP_003565.4:p.Ser198Pro, NP_919415.2:p.Ser153Pro, XP_016881568.1:p.Ser140Pro, XP_047293885.1:p.Ser185Pro, XP_047293886.1:p.Ser185Pro, XP_047293888.1:p.Ser140Pro, XP_047293884.1:p.Ser185Pro, XP_047293887.1:p.Ser185Pro

Select item 142253431112.

rs1422534311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:9936147 (GRCh38)
18:9936144 (GRCh37)
Canonical SPDI:: NC_000018.10:9936146:G:T
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9936147G>T, NC_000018.9:g.9936144G>T, NM_003574.6:c.270G>T, NM_003574.5:c.270G>T, NM_194434.3:c.270G>T, NM_194434.2:c.270G>T, XM_017026079.2:c.231G>T, XM_017026079.1:c.231G>T, XM_047437929.1:c.231G>T, XM_047437930.1:c.231G>T, XM_047437932.1:c.231G>T, XM_047437928.1:c.231G>T, XM_047437931.1:c.231G>T, NP_003565.4:p.Lys90Asn, NP_919415.2:p.Lys90Asn, XP_016881568.1:p.Lys77Asn, XP_047293885.1:p.Lys77Asn, XP_047293886.1:p.Lys77Asn, XP_047293888.1:p.Lys77Asn, XP_047293884.1:p.Lys77Asn, XP_047293887.1:p.Lys77Asn

Select item 141261308213.

rs1412613082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:9950543 (GRCh38)
18:9950540 (GRCh37)
Canonical SPDI:: NC_000018.10:9950542:T:A
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.9950543T>A, NC_000018.9:g.9950540T>A, NM_003574.6:c.701T>A, NM_003574.5:c.701T>A, NM_194434.3:c.566T>A, NM_194434.2:c.566T>A, XM_017026079.2:c.527T>A, XM_017026079.1:c.527T>A, XM_047437929.1:c.662T>A, XM_047437930.1:c.662T>A, XM_047437932.1:c.527T>A, XM_047437928.1:c.662T>A, XM_047437931.1:c.662T>A, NP_003565.4:p.Leu234Gln, NP_919415.2:p.Leu189Gln, XP_016881568.1:p.Leu176Gln, XP_047293885.1:p.Leu221Gln, XP_047293886.1:p.Leu221Gln, XP_047293888.1:p.Leu176Gln, XP_047293884.1:p.Leu221Gln, XP_047293887.1:p.Leu221Gln

Select item 140542362214.

rs1405423622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9931956 (GRCh38)
18:9931953 (GRCh37)
Canonical SPDI:: NC_000018.10:9931955:G:A
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.9931956G>A, NC_000018.9:g.9931953G>A, NM_003574.6:c.226G>A, NM_003574.5:c.226G>A, NM_194434.3:c.226G>A, NM_194434.2:c.226G>A, XM_017026079.2:c.187G>A, XM_017026079.1:c.187G>A, XM_047437929.1:c.187G>A, XM_047437930.1:c.187G>A, XM_047437932.1:c.187G>A, XM_047437928.1:c.187G>A, XM_047437931.1:c.187G>A, NP_003565.4:p.Val76Ile, NP_919415.2:p.Val76Ile, XP_016881568.1:p.Val63Ile, XP_047293885.1:p.Val63Ile, XP_047293886.1:p.Val63Ile, XP_047293888.1:p.Val63Ile, XP_047293884.1:p.Val63Ile, XP_047293887.1:p.Val63Ile

Select item 140500978015.

rs1405009780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:9954155 (GRCh38)
18:9954152 (GRCh37)
Canonical SPDI:: NC_000018.10:9954154:C:G
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9954155C>G, NC_000018.9:g.9954152C>G, NM_003574.6:c.829C>G, NM_003574.5:c.829C>G, NM_194434.3:c.694C>G, NM_194434.2:c.694C>G, XM_017026079.2:c.655C>G, XM_017026079.1:c.655C>G, XM_047437929.1:c.790C>G, XM_047437930.1:c.790C>G, XM_047437932.1:c.655C>G, XM_047437928.1:c.790C>G, XM_047437931.1:c.790C>G, NP_003565.4:p.Leu277Val, NP_919415.2:p.Leu232Val, XP_016881568.1:p.Leu219Val, XP_047293885.1:p.Leu264Val, XP_047293886.1:p.Leu264Val, XP_047293888.1:p.Leu219Val, XP_047293884.1:p.Leu264Val, XP_047293887.1:p.Leu264Val

Select item 139773669016.

rs1397736690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9950462 (GRCh38)
18:9950459 (GRCh37)
Canonical SPDI:: NC_000018.10:9950461:C:T
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.9950462C>T, NC_000018.9:g.9950459C>T, NM_003574.6:c.620C>T, NM_003574.5:c.620C>T, NM_194434.3:c.485C>T, NM_194434.2:c.485C>T, XM_017026079.2:c.446C>T, XM_017026079.1:c.446C>T, XM_047437929.1:c.581C>T, XM_047437930.1:c.581C>T, XM_047437932.1:c.446C>T, XM_047437928.1:c.581C>T, XM_047437931.1:c.581C>T, NP_003565.4:p.Pro207Leu, NP_919415.2:p.Pro162Leu, XP_016881568.1:p.Pro149Leu, XP_047293885.1:p.Pro194Leu, XP_047293886.1:p.Pro194Leu, XP_047293888.1:p.Pro149Leu, XP_047293884.1:p.Pro194Leu, XP_047293887.1:p.Pro194Leu

Select item 139539606317.

rs1395396063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9954066 (GRCh38)
18:9954063 (GRCh37)
Canonical SPDI:: NC_000018.10:9954065:G:A
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.9954066G>A, NC_000018.9:g.9954063G>A, NM_003574.6:c.740G>A, NM_003574.5:c.740G>A, NM_194434.3:c.605G>A, NM_194434.2:c.605G>A, XM_017026079.2:c.566G>A, XM_017026079.1:c.566G>A, XM_047437929.1:c.701G>A, XM_047437930.1:c.701G>A, XM_047437932.1:c.566G>A, XM_047437928.1:c.701G>A, XM_047437931.1:c.701G>A, NP_003565.4:p.Arg247Lys, NP_919415.2:p.Arg202Lys, XP_016881568.1:p.Arg189Lys, XP_047293885.1:p.Arg234Lys, XP_047293886.1:p.Arg234Lys, XP_047293888.1:p.Arg189Lys, XP_047293884.1:p.Arg234Lys, XP_047293887.1:p.Arg234Lys

Select item 137602767518.

rs1376027675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9936210 (GRCh38)
18:9936207 (GRCh37)
Canonical SPDI:: NC_000018.10:9936209:T:C
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9936210T>C, NC_000018.9:g.9936207T>C, NM_003574.6:c.333T>C, NM_003574.5:c.333T>C, NM_194434.3:c.333T>C, NM_194434.2:c.333T>C, XM_017026079.2:c.294T>C, XM_017026079.1:c.294T>C, XM_047437929.1:c.294T>C, XM_047437930.1:c.294T>C, XM_047437932.1:c.294T>C, XM_047437928.1:c.294T>C, XM_047437931.1:c.294T>C

Select item 137467966919.

rs1374679669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:9931872 (GRCh38)
18:9931869 (GRCh37)
Canonical SPDI:: NC_000018.10:9931871:T:A
Gene:: VAPA (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_000018.10:g.9931872T>A, NC_000018.9:g.9931869T>A, NM_003574.6:c.142T>A, NM_003574.5:c.142T>A, NM_194434.3:c.142T>A, NM_194434.2:c.142T>A, XM_017026079.2:c.103T>A, XM_017026079.1:c.103T>A, XM_047437929.1:c.103T>A, XM_047437930.1:c.103T>A, XM_047437932.1:c.103T>A, XM_047437928.1:c.103T>A, XM_047437931.1:c.103T>A, NP_003565.4:p.Cys48Ser, NP_919415.2:p.Cys48Ser, XP_016881568.1:p.Cys35Ser, XP_047293885.1:p.Cys35Ser, XP_047293886.1:p.Cys35Ser, XP_047293888.1:p.Cys35Ser, XP_047293884.1:p.Cys35Ser, XP_047293887.1:p.Cys35Ser

Select item 137431560220.

rs1374315602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:9936152 (GRCh38)
18:9936149 (GRCh37)
Canonical SPDI:: NC_000018.10:9936151:A:G
Gene:: VAPA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.9936152A>G, NC_000018.9:g.9936149A>G, NM_003574.6:c.275A>G, NM_003574.5:c.275A>G, NM_194434.3:c.275A>G, NM_194434.2:c.275A>G, XM_017026079.2:c.236A>G, XM_017026079.1:c.236A>G, XM_047437929.1:c.236A>G, XM_047437930.1:c.236A>G, XM_047437932.1:c.236A>G, XM_047437928.1:c.236A>G, XM_047437931.1:c.236A>G, NP_003565.4:p.Lys92Arg, NP_919415.2:p.Lys92Arg, XP_016881568.1:p.Lys79Arg, XP_047293885.1:p.Lys79Arg, XP_047293886.1:p.Lys79Arg, XP_047293888.1:p.Lys79Arg, XP_047293884.1:p.Lys79Arg, XP_047293887.1:p.Lys79Arg

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