SNP Links for Protein (Select 1016080540) - SNP

Links from Protein

Items: 1 to 20 of 894

<< First< Prev

Page of 45

Next >Last >>

Select item 14891915941.

rs1489191594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:2639862 (GRCh38)
9:2639862 (GRCh37)
Canonical SPDI:: NC_000009.12:2639861:A:G
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.2639862A>G, NC_000009.11:g.2639862A>G, NG_012741.1:g.23070A>G, NM_003383.5:c.206A>G, NM_003383.4:c.206A>G, NM_003383.3:c.206A>G, NM_001018056.3:c.206A>G, NM_001018056.2:c.206A>G, NM_001018056.1:c.206A>G, NM_001322225.2:c.206A>G, NM_001322225.1:c.206A>G, NM_001322226.2:c.206A>G, NM_001322226.1:c.206A>G, XM_047423848.1:c.206A>G, NP_003374.3:p.Lys69Arg, NP_001018066.1:p.Lys69Arg, NP_001309154.1:p.Lys69Arg, NP_001309155.1:p.Lys69Arg, XP_047279804.1:p.Lys69Arg

Select item 14891503522.

rs1489150352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:2643838 (GRCh38)
9:2643838 (GRCh37)
Canonical SPDI:: NC_000009.12:2643837:C:T
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.2643838C>T, NC_000009.11:g.2643838C>T, NG_012741.1:g.27046C>T, NM_003383.5:c.945C>T, NM_003383.4:c.945C>T, NM_003383.3:c.945C>T, NM_001018056.3:c.945C>T, NM_001018056.2:c.945C>T, NM_001018056.1:c.945C>T, NM_001322225.2:c.822C>T, NM_001322225.1:c.822C>T, NM_001322226.2:c.822C>T, NM_001322226.1:c.822C>T, XM_047423848.1:c.945C>T

Select item 14875763593.

rs1487576359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:2651951 (GRCh38)
9:2651951 (GRCh37)
Canonical SPDI:: NC_000009.12:2651950:C:T
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000009.12:g.2651951C>T, NC_000009.11:g.2651951C>T, NG_012741.1:g.35159C>T, NM_003383.5:c.2413C>T, NM_003383.4:c.2413C>T, NM_003383.3:c.2413C>T, NM_001018056.3:c.2329C>T, NM_001018056.2:c.2329C>T, NM_001018056.1:c.2329C>T, NM_001322225.2:c.2290C>T, NM_001322225.1:c.2290C>T, NM_001322226.2:c.2206C>T, NM_001322226.1:c.2206C>T, XR_929436.3:n.27691G>A, XR_929435.3:n.1362G>A, NP_003374.3:p.Leu805Phe, NP_001018066.1:p.Leu777Phe, NP_001309154.1:p.Leu764Phe, NP_001309155.1:p.Leu736Phe

Select item 14874196144.

rs1487419614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:2651953 (GRCh38)
9:2651953 (GRCh37)
Canonical SPDI:: NC_000009.12:2651952:C:G,NC_000009.12:2651952:C:T
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2651953C>G, NC_000009.12:g.2651953C>T, NC_000009.11:g.2651953C>G, NC_000009.11:g.2651953C>T, NG_012741.1:g.35161C>G, NG_012741.1:g.35161C>T, NM_003383.5:c.2415C>G, NM_003383.5:c.2415C>T, NM_003383.4:c.2415C>G, NM_003383.4:c.2415C>T, NM_003383.3:c.2415C>G, NM_003383.3:c.2415C>T, NM_001018056.3:c.2331C>G, NM_001018056.3:c.2331C>T, NM_001018056.2:c.2331C>G, NM_001018056.2:c.2331C>T, NM_001018056.1:c.2331C>G, NM_001018056.1:c.2331C>T, NM_001322225.2:c.2292C>G, NM_001322225.2:c.2292C>T, NM_001322225.1:c.2292C>G, NM_001322225.1:c.2292C>T, NM_001322226.2:c.2208C>G, NM_001322226.2:c.2208C>T, NM_001322226.1:c.2208C>G, NM_001322226.1:c.2208C>T, XR_929436.3:n.27689G>C, XR_929436.3:n.27689G>A, XR_929435.3:n.1360G>C, XR_929435.3:n.1360G>A

Select item 14868528875.

rs1486852887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:2651939 (GRCh38)
9:2651939 (GRCh37)
Canonical SPDI:: NC_000009.12:2651938:G:A
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000009.12:g.2651939G>A, NC_000009.11:g.2651939G>A, NG_012741.1:g.35147G>A, NM_003383.5:c.2401G>A, NM_003383.4:c.2401G>A, NM_003383.3:c.2401G>A, NM_001018056.3:c.2317G>A, NM_001018056.2:c.2317G>A, NM_001018056.1:c.2317G>A, NM_001322225.2:c.2278G>A, NM_001322225.1:c.2278G>A, NM_001322226.2:c.2194G>A, NM_001322226.1:c.2194G>A, XR_929436.3:n.27703C>T, XR_929435.3:n.1374C>T, NP_003374.3:p.Ala801Thr, NP_001018066.1:p.Ala773Thr, NP_001309154.1:p.Ala760Thr, NP_001309155.1:p.Ala732Thr

Select item 14837071566.

rs1483707156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:2650412 (GRCh38)
9:2650412 (GRCh37)
Canonical SPDI:: NC_000009.12:2650411:A:C
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.2650412A>C, NC_000009.11:g.2650412A>C, NG_012741.1:g.33620A>C, NM_003383.5:c.2147A>C, NM_003383.4:c.2147A>C, NM_003383.3:c.2147A>C, NM_001018056.3:c.2147A>C, NM_001018056.2:c.2147A>C, NM_001018056.1:c.2147A>C, NM_001322225.2:c.2024A>C, NM_001322225.1:c.2024A>C, NM_001322226.2:c.2024A>C, NM_001322226.1:c.2024A>C, XR_929436.3:n.29230T>G, XR_929435.3:n.2901T>G, NP_003374.3:p.Glu716Ala, NP_001018066.1:p.Glu716Ala, NP_001309154.1:p.Glu675Ala, NP_001309155.1:p.Glu675Ala

Select item 14835183097.

rs1483518309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:2648777 (GRCh38)
9:2648777 (GRCh37)
Canonical SPDI:: NC_000009.12:2648776:A:G
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.2648777A>G, NC_000009.11:g.2648777A>G, NG_012741.1:g.31985A>G, NM_003383.5:c.2071A>G, NM_003383.4:c.2071A>G, NM_003383.3:c.2071A>G, NM_001018056.3:c.2071A>G, NM_001018056.2:c.2071A>G, NM_001018056.1:c.2071A>G, NM_001322225.2:c.1948A>G, NM_001322225.1:c.1948A>G, NM_001322226.2:c.1948A>G, NM_001322226.1:c.1948A>G, NP_003374.3:p.Ile691Val, NP_001018066.1:p.Ile691Val, NP_001309154.1:p.Ile650Val, NP_001309155.1:p.Ile650Val

Select item 14829852818.

rs1482985281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:2645575 (GRCh38)
9:2645575 (GRCh37)
Canonical SPDI:: NC_000009.12:2645574:C:T
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2645575C>T, NC_000009.11:g.2645575C>T, NG_012741.1:g.28783C>T, NM_003383.5:c.1314C>T, NM_003383.4:c.1314C>T, NM_003383.3:c.1314C>T, NM_001018056.3:c.1314C>T, NM_001018056.2:c.1314C>T, NM_001018056.1:c.1314C>T, NM_001322225.2:c.1191C>T, NM_001322225.1:c.1191C>T, NM_001322226.2:c.1191C>T, NM_001322226.1:c.1191C>T, XM_047423848.1:c.1314C>T

Select item 14825521099.

rs1482552109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:2645005 (GRCh38)
9:2645005 (GRCh37)
Canonical SPDI:: NC_000009.12:2645004:A:G
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.2645005A>G, NC_000009.11:g.2645005A>G, NG_012741.1:g.28213A>G, NM_003383.5:c.1235A>G, NM_003383.4:c.1235A>G, NM_003383.3:c.1235A>G, NM_001018056.3:c.1235A>G, NM_001018056.2:c.1235A>G, NM_001018056.1:c.1235A>G, NM_001322225.2:c.1112A>G, NM_001322225.1:c.1112A>G, NM_001322226.2:c.1112A>G, NM_001322226.1:c.1112A>G, XM_047423848.1:c.1235A>G, NP_003374.3:p.Asn412Ser, NP_001018066.1:p.Asn412Ser, NP_001309154.1:p.Asn371Ser, NP_001309155.1:p.Asn371Ser, XP_047279804.1:p.Asn412Ser

Select item 148144301210.

rs1481443012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:2643197 (GRCh38)
9:2643197 (GRCh37)
Canonical SPDI:: NC_000009.12:2643196:C:T
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2643197C>T, NC_000009.11:g.2643197C>T, NG_012741.1:g.26405C>T, NM_003383.5:c.486C>T, NM_003383.4:c.486C>T, NM_003383.3:c.486C>T, NM_001018056.3:c.486C>T, NM_001018056.2:c.486C>T, NM_001018056.1:c.486C>T, NM_001322225.2:c.363C>T, NM_001322225.1:c.363C>T, NM_001322226.2:c.363C>T, NM_001322226.1:c.363C>T, XM_047423848.1:c.486C>T

Select item 148117288411.

rs1481172884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:2646520 (GRCh38)
9:2646520 (GRCh37)
Canonical SPDI:: NC_000009.12:2646519:G:A,NC_000009.12:2646519:G:C
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000177/3 (TOMMO)
HGVS:: NC_000009.12:g.2646520G>A, NC_000009.12:g.2646520G>C, NC_000009.11:g.2646520G>A, NC_000009.11:g.2646520G>C, NG_012741.1:g.29728G>A, NG_012741.1:g.29728G>C, NM_003383.5:c.1671G>A, NM_003383.5:c.1671G>C, NM_003383.4:c.1671G>A, NM_003383.4:c.1671G>C, NM_003383.3:c.1671G>A, NM_003383.3:c.1671G>C, NM_001018056.3:c.1671G>A, NM_001018056.3:c.1671G>C, NM_001018056.2:c.1671G>A, NM_001018056.2:c.1671G>C, NM_001018056.1:c.1671G>A, NM_001018056.1:c.1671G>C, NM_001322225.2:c.1548G>A, NM_001322225.2:c.1548G>C, NM_001322225.1:c.1548G>A, NM_001322225.1:c.1548G>C, NM_001322226.2:c.1548G>A, NM_001322226.2:c.1548G>C, NM_001322226.1:c.1548G>A, NM_001322226.1:c.1548G>C, XM_047423848.1:c.*109G>A, XM_047423848.1:c.*109G>C, NP_003374.3:p.Glu557Asp, NP_001018066.1:p.Glu557Asp, NP_001309154.1:p.Glu516Asp, NP_001309155.1:p.Glu516Asp

Select item 147947823012.

rs1479478230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:2635568 (GRCh38)
9:2635568 (GRCh37)
Canonical SPDI:: NC_000009.12:2635567:C:A,NC_000009.12:2635567:C:G
Gene:: VLDLR (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)
HGVS:: NC_000009.12:g.2635568C>A, NC_000009.12:g.2635568C>G, NC_000009.11:g.2635568C>A, NC_000009.11:g.2635568C>G, NG_012741.1:g.18776C>A, NG_012741.1:g.18776C>G, NM_003383.5:c.198C>A, NM_003383.5:c.198C>G, NM_003383.4:c.198C>A, NM_003383.4:c.198C>G, NM_003383.3:c.198C>A, NM_003383.3:c.198C>G, NM_001018056.3:c.198C>A, NM_001018056.3:c.198C>G, NM_001018056.2:c.198C>A, NM_001018056.2:c.198C>G, NM_001018056.1:c.198C>A, NM_001018056.1:c.198C>G, NM_001322225.2:c.198C>A, NM_001322225.2:c.198C>G, NM_001322225.1:c.198C>A, NM_001322225.1:c.198C>G, NM_001322226.2:c.198C>A, NM_001322226.2:c.198C>G, NM_001322226.1:c.198C>A, NM_001322226.1:c.198C>G, XM_047423848.1:c.198C>A, XM_047423848.1:c.198C>G, NP_003374.3:p.Asn66Lys, NP_003374.3:p.Asn66Lys, NP_001018066.1:p.Asn66Lys, NP_001018066.1:p.Asn66Lys, NP_001309154.1:p.Asn66Lys, NP_001309154.1:p.Asn66Lys, NP_001309155.1:p.Asn66Lys, NP_001309155.1:p.Asn66Lys, XP_047279804.1:p.Asn66Lys, XP_047279804.1:p.Asn66Lys

Select item 147922709713.

rs1479227097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:2645647 (GRCh38)
9:2645647 (GRCh37)
Canonical SPDI:: NC_000009.12:2645646:C:G
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2645647C>G, NC_000009.11:g.2645647C>G, NG_012741.1:g.28855C>G, NM_003383.5:c.1386C>G, NM_003383.4:c.1386C>G, NM_003383.3:c.1386C>G, NM_001018056.3:c.1386C>G, NM_001018056.2:c.1386C>G, NM_001018056.1:c.1386C>G, NM_001322225.2:c.1263C>G, NM_001322225.1:c.1263C>G, NM_001322226.2:c.1263C>G, NM_001322226.1:c.1263C>G, XM_047423848.1:c.1386C>G, NP_003374.3:p.Ile462Met, NP_001018066.1:p.Ile462Met, NP_001309154.1:p.Ile421Met, NP_001309155.1:p.Ile421Met, XP_047279804.1:p.Ile462Met

Select item 147769855214.

rs1477698552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:2646431 (GRCh38)
9:2646431 (GRCh37)
Canonical SPDI:: NC_000009.12:2646430:T:G
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2646431T>G, NC_000009.11:g.2646431T>G, NG_012741.1:g.29639T>G, NM_003383.5:c.1582T>G, NM_003383.4:c.1582T>G, NM_003383.3:c.1582T>G, NM_001018056.3:c.1582T>G, NM_001018056.2:c.1582T>G, NM_001018056.1:c.1582T>G, NM_001322225.2:c.1459T>G, NM_001322225.1:c.1459T>G, NM_001322226.2:c.1459T>G, NM_001322226.1:c.1459T>G, XM_047423848.1:c.*20T>G, NP_003374.3:p.Tyr528Asp, NP_001018066.1:p.Tyr528Asp, NP_001309154.1:p.Tyr487Asp, NP_001309155.1:p.Tyr487Asp

Select item 147700181615.

rs1477001816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:2648804 (GRCh38)
9:2648804 (GRCh37)
Canonical SPDI:: NC_000009.12:2648803:C:T
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2648804C>T, NC_000009.11:g.2648804C>T, NG_012741.1:g.32012C>T, NM_003383.5:c.2098C>T, NM_003383.4:c.2098C>T, NM_003383.3:c.2098C>T, NM_001018056.3:c.2098C>T, NM_001018056.2:c.2098C>T, NM_001018056.1:c.2098C>T, NM_001322225.2:c.1975C>T, NM_001322225.1:c.1975C>T, NM_001322226.2:c.1975C>T, NM_001322226.1:c.1975C>T, NP_003374.3:p.Pro700Ser, NP_001018066.1:p.Pro700Ser, NP_001309154.1:p.Pro659Ser, NP_001309155.1:p.Pro659Ser

Select item 147671672616.

rs1476716726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:2650449 (GRCh38)
9:2650449 (GRCh37)
Canonical SPDI:: NC_000009.12:2650448:C:G,NC_000009.12:2650448:C:T
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.2650449C>G, NC_000009.12:g.2650449C>T, NC_000009.11:g.2650449C>G, NC_000009.11:g.2650449C>T, NG_012741.1:g.33657C>G, NG_012741.1:g.33657C>T, NM_003383.5:c.2184C>G, NM_003383.5:c.2184C>T, NM_003383.4:c.2184C>G, NM_003383.4:c.2184C>T, NM_003383.3:c.2184C>G, NM_003383.3:c.2184C>T, NM_001018056.3:c.2184C>G, NM_001018056.3:c.2184C>T, NM_001018056.2:c.2184C>G, NM_001018056.2:c.2184C>T, NM_001018056.1:c.2184C>G, NM_001018056.1:c.2184C>T, NM_001322225.2:c.2061C>G, NM_001322225.2:c.2061C>T, NM_001322225.1:c.2061C>G, NM_001322225.1:c.2061C>T, NM_001322226.2:c.2061C>G, NM_001322226.2:c.2061C>T, NM_001322226.1:c.2061C>G, NM_001322226.1:c.2061C>T, XR_929436.3:n.29193G>C, XR_929436.3:n.29193G>A, XR_929435.3:n.2864G>C, XR_929435.3:n.2864G>A, NP_003374.3:p.His728Gln, NP_001018066.1:p.His728Gln, NP_001309154.1:p.His687Gln, NP_001309155.1:p.His687Gln

Select item 147506241717.

rs1475062417 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAACA [Show Flanks]
Chromosome:: 9:2648807 (GRCh38)
9:2648808 (GRCh37)
Canonical SPDI:: NC_000009.12:2648807::TAACA
Gene:: VLDLR (Varview), LOC105375957 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.2648807_2648808insTAACA, NC_000009.11:g.2648807_2648808insTAACA, NG_012741.1:g.32015_32016insTAACA, NM_003383.5:c.2101_2102insTAACA, NM_003383.4:c.2101_2102insTAACA, NM_003383.3:c.2101_2102insTAACA, NM_001018056.3:c.2101_2102insTAACA, NM_001018056.2:c.2101_2102insTAACA, NM_001018056.1:c.2101_2102insTAACA, NM_001322225.2:c.1978_1979insTAACA, NM_001322225.1:c.1978_1979insTAACA, NM_001322226.2:c.1978_1979insTAACA, NM_001322226.1:c.1978_1979insTAACA, NP_003374.3:p.Ser701fs, NP_001018066.1:p.Ser701fs, NP_001309154.1:p.Ser660fs, NP_001309155.1:p.Ser660fs

Select item 147427805018.

rs1474278050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:2646402 (GRCh38)
9:2646402 (GRCh37)
Canonical SPDI:: NC_000009.12:2646401:T:C
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.2646402T>C, NC_000009.11:g.2646402T>C, NG_012741.1:g.29610T>C, NM_003383.5:c.1553T>C, NM_003383.4:c.1553T>C, NM_003383.3:c.1553T>C, NM_001018056.3:c.1553T>C, NM_001018056.2:c.1553T>C, NM_001018056.1:c.1553T>C, NM_001322225.2:c.1430T>C, NM_001322225.1:c.1430T>C, NM_001322226.2:c.1430T>C, NM_001322226.1:c.1430T>C, XM_047423848.1:c.1488T>C, NP_003374.3:p.Ile518Thr, NP_001018066.1:p.Ile518Thr, NP_001309154.1:p.Ile477Thr, NP_001309155.1:p.Ile477Thr

Select item 147357259419.

rs1473572594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:2645609 (GRCh38)
9:2645609 (GRCh37)
Canonical SPDI:: NC_000009.12:2645608:G:C
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.2645609G>C, NC_000009.11:g.2645609G>C, NG_012741.1:g.28817G>C, NM_003383.5:c.1348G>C, NM_003383.4:c.1348G>C, NM_003383.3:c.1348G>C, NM_001018056.3:c.1348G>C, NM_001018056.2:c.1348G>C, NM_001018056.1:c.1348G>C, NM_001322225.2:c.1225G>C, NM_001322225.1:c.1225G>C, NM_001322226.2:c.1225G>C, NM_001322226.1:c.1225G>C, XM_047423848.1:c.1348G>C, NP_003374.3:p.Asp450His, NP_001018066.1:p.Asp450His, NP_001309154.1:p.Asp409His, NP_001309155.1:p.Asp409His, XP_047279804.1:p.Asp450His

Select item 147131890220.

rs1471318902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:2643493 (GRCh38)
9:2643493 (GRCh37)
Canonical SPDI:: NC_000009.12:2643492:A:G
Gene:: VLDLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.2643493A>G, NC_000009.11:g.2643493A>G, NG_012741.1:g.26701A>G, NM_003383.5:c.782A>G, NM_003383.4:c.782A>G, NM_003383.3:c.782A>G, NM_001018056.3:c.782A>G, NM_001018056.2:c.782A>G, NM_001018056.1:c.782A>G, NM_001322225.2:c.659A>G, NM_001322225.1:c.659A>G, NM_001322226.2:c.659A>G, NM_001322226.1:c.659A>G, XM_047423848.1:c.782A>G, NP_003374.3:p.Asp261Gly, NP_001018066.1:p.Asp261Gly, NP_001309154.1:p.Asp220Gly, NP_001309155.1:p.Asp220Gly, XP_047279804.1:p.Asp261Gly

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 894

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity