SNP Links for Protein (Select 226437599) - SNP

Links from Protein

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Select item 14899829761.

rs1489982976 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:29530093 (GRCh38)
19:30021001 (GRCh37)
Canonical SPDI:: NC_000019.10:29530093::A
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29530093_29530094insA, NC_000019.9:g.30021000_30021001insA, XM_011526902.3:c.572_573insA, XM_011526902.2:c.572_573insA, XM_011526902.1:c.572_573insA, XM_011526903.3:c.542_543insA, XM_011526903.2:c.542_543insA, XM_011526903.1:c.542_543insA, XM_011526905.3:c.380_381insA, XM_011526905.2:c.380_381insA, XM_011526905.1:c.380_381insA, NM_001146339.2:c.572_573insA, NM_001146339.1:c.572_573insA, NM_001384640.1:c.542_543insA, NM_001384641.1:c.434_435insA, NM_001384642.1:c.404_405insA, NM_001384643.1:c.308_309insA, XP_011525204.1:p.Thr192fs, XP_011525205.1:p.Thr182fs, XP_011525207.1:p.Thr128fs, NP_001139811.1:p.Thr192fs, NP_001371569.1:p.Thr182fs, NP_001371570.1:p.Thr146fs, NP_001371571.1:p.Thr136fs, NP_001371572.1:p.Thr104fs

Select item 14892835862.

rs1489283586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29526642 (GRCh38)
19:30017549 (GRCh37)
Canonical SPDI:: NC_000019.10:29526641:C:T
Gene:: VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29526642C>T, NC_000019.9:g.30017549C>T, XM_011526902.3:c.59C>T, XM_011526902.2:c.59C>T, XM_011526902.1:c.59C>T, XM_011526903.3:c.59C>T, XM_011526903.2:c.59C>T, XM_011526903.1:c.59C>T, NM_001146339.2:c.59C>T, NM_001146339.1:c.59C>T, NM_001384640.1:c.59C>T, XP_011525204.1:p.Ala20Val, XP_011525205.1:p.Ala20Val, NP_001139811.1:p.Ala20Val, NP_001371569.1:p.Ala20Val

Select item 14881669903.

rs1488166990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:29530153 (GRCh38)
19:30021060 (GRCh37)
Canonical SPDI:: NC_000019.10:29530152:T:G
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29530153T>G, NC_000019.9:g.30021060T>G, XM_011526902.3:c.632T>G, XM_011526902.2:c.632T>G, XM_011526902.1:c.632T>G, XM_011526903.3:c.602T>G, XM_011526903.2:c.602T>G, XM_011526903.1:c.602T>G, XM_011526905.3:c.440T>G, XM_011526905.2:c.440T>G, XM_011526905.1:c.440T>G, NM_001146339.2:c.632T>G, NM_001146339.1:c.632T>G, NM_001384640.1:c.602T>G, NM_001384641.1:c.494T>G, NM_001384642.1:c.464T>G, NM_001384643.1:c.368T>G, XP_011525204.1:p.Ile211Ser, XP_011525205.1:p.Ile201Ser, XP_011525207.1:p.Ile147Ser, NP_001139811.1:p.Ile211Ser, NP_001371569.1:p.Ile201Ser, NP_001371570.1:p.Ile165Ser, NP_001371571.1:p.Ile155Ser, NP_001371572.1:p.Ile123Ser

Select item 14871296084.

rs1487129608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29528459 (GRCh38)
19:30019366 (GRCh37)
Canonical SPDI:: NC_000019.10:29528458:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.29528459C>T, NC_000019.9:g.30019366C>T, XM_011526902.3:c.294C>T, XM_011526902.2:c.294C>T, XM_011526902.1:c.294C>T, NM_001146339.2:c.294C>T, NM_001146339.1:c.294C>T, NM_001384641.1:c.156C>T

Select item 14859482835.

rs1485948283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:29527245 (GRCh38)
19:30018152 (GRCh37)
Canonical SPDI:: NC_000019.10:29527244:A:G
Gene:: VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29527245A>G, NC_000019.9:g.30018152A>G, XM_011526902.3:c.117A>G, XM_011526902.2:c.117A>G, XM_011526902.1:c.117A>G, XM_011526903.3:c.117A>G, XM_011526903.2:c.117A>G, XM_011526903.1:c.117A>G, NM_001146339.2:c.117A>G, NM_001146339.1:c.117A>G, NM_001384640.1:c.117A>G, NM_001384641.1:c.-22A>G, NM_001384642.1:c.-22A>G

Select item 14847507106.

rs1484750710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29530001 (GRCh38)
19:30020908 (GRCh37)
Canonical SPDI:: NC_000019.10:29530000:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000029/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29530001C>T, NC_000019.9:g.30020908C>T, XM_011526902.3:c.480C>T, XM_011526902.2:c.480C>T, XM_011526902.1:c.480C>T, XM_011526903.3:c.450C>T, XM_011526903.2:c.450C>T, XM_011526903.1:c.450C>T, XM_011526905.3:c.288C>T, XM_011526905.2:c.288C>T, XM_011526905.1:c.288C>T, NM_001146339.2:c.480C>T, NM_001146339.1:c.480C>T, NM_001384640.1:c.450C>T, NM_001384641.1:c.342C>T, NM_001384642.1:c.312C>T, NM_001384643.1:c.216C>T

Select item 14828718797.

rs1482871879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:29530079 (GRCh38)
19:30020986 (GRCh37)
Canonical SPDI:: NC_000019.10:29530078:C:A,NC_000019.10:29530078:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.29530079C>A, NC_000019.10:g.29530079C>T, NC_000019.9:g.30020986C>A, NC_000019.9:g.30020986C>T, XM_011526902.3:c.558C>A, XM_011526902.3:c.558C>T, XM_011526902.2:c.558C>A, XM_011526902.2:c.558C>T, XM_011526902.1:c.558C>A, XM_011526902.1:c.558C>T, XM_011526903.3:c.528C>A, XM_011526903.3:c.528C>T, XM_011526903.2:c.528C>A, XM_011526903.2:c.528C>T, XM_011526903.1:c.528C>A, XM_011526903.1:c.528C>T, XM_011526905.3:c.366C>A, XM_011526905.3:c.366C>T, XM_011526905.2:c.366C>A, XM_011526905.2:c.366C>T, XM_011526905.1:c.366C>A, XM_011526905.1:c.366C>T, NM_001146339.2:c.558C>A, NM_001146339.2:c.558C>T, NM_001146339.1:c.558C>A, NM_001146339.1:c.558C>T, NM_001384640.1:c.528C>A, NM_001384640.1:c.528C>T, NM_001384641.1:c.420C>A, NM_001384641.1:c.420C>T, NM_001384642.1:c.390C>A, NM_001384642.1:c.390C>T, NM_001384643.1:c.294C>A, NM_001384643.1:c.294C>T

Select item 14797690438.

rs1479769043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29530148 (GRCh38)
19:30021055 (GRCh37)
Canonical SPDI:: NC_000019.10:29530147:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000013/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29530148C>T, NC_000019.9:g.30021055C>T, XM_011526902.3:c.627C>T, XM_011526902.2:c.627C>T, XM_011526902.1:c.627C>T, XM_011526903.3:c.597C>T, XM_011526903.2:c.597C>T, XM_011526903.1:c.597C>T, XM_011526905.3:c.435C>T, XM_011526905.2:c.435C>T, XM_011526905.1:c.435C>T, NM_001146339.2:c.627C>T, NM_001146339.1:c.627C>T, NM_001384640.1:c.597C>T, NM_001384641.1:c.489C>T, NM_001384642.1:c.459C>T, NM_001384643.1:c.363C>T

Select item 14785011599.

rs1478501159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:29530195 (GRCh38)
19:30021102 (GRCh37)
Canonical SPDI:: NC_000019.10:29530194:A:G
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.29530195A>G, NC_000019.9:g.30021102A>G, XM_011526902.3:c.674A>G, XM_011526902.2:c.674A>G, XM_011526902.1:c.674A>G, XM_011526903.3:c.644A>G, XM_011526903.2:c.644A>G, XM_011526903.1:c.644A>G, XM_011526905.3:c.482A>G, XM_011526905.2:c.482A>G, XM_011526905.1:c.482A>G, NM_001146339.2:c.674A>G, NM_001146339.1:c.674A>G, NM_001384640.1:c.644A>G, NM_001384641.1:c.536A>G, NM_001384642.1:c.506A>G, NM_001384643.1:c.410A>G, XP_011525204.1:p.His225Arg, XP_011525205.1:p.His215Arg, XP_011525207.1:p.His161Arg, NP_001139811.1:p.His225Arg, NP_001371569.1:p.His215Arg, NP_001371570.1:p.His179Arg, NP_001371571.1:p.His169Arg, NP_001371572.1:p.His137Arg

Select item 147817052710.

rs1478170527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:29529887 (GRCh38)
19:30020794 (GRCh37)
Canonical SPDI:: NC_000019.10:29529886:G:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29529887G>T, NC_000019.9:g.30020794G>T, XM_011526902.3:c.366G>T, XM_011526902.2:c.366G>T, XM_011526902.1:c.366G>T, XM_011526903.3:c.336G>T, XM_011526903.2:c.336G>T, XM_011526903.1:c.336G>T, XM_011526905.3:c.174G>T, XM_011526905.2:c.174G>T, XM_011526905.1:c.174G>T, NM_001146339.2:c.366G>T, NM_001146339.1:c.366G>T, NM_001384640.1:c.336G>T, NM_001384641.1:c.228G>T, NM_001384642.1:c.198G>T, NM_001384643.1:c.102G>T, XP_011525204.1:p.Glu122Asp, XP_011525205.1:p.Glu112Asp, XP_011525207.1:p.Glu58Asp, NP_001139811.1:p.Glu122Asp, NP_001371569.1:p.Glu112Asp, NP_001371570.1:p.Glu76Asp, NP_001371571.1:p.Glu66Asp, NP_001371572.1:p.Glu34Asp

Select item 147799826311.

rs1477998263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:29563906 (GRCh38)
19:30054813 (GRCh37)
Canonical SPDI:: NC_000019.10:29563905:A:C
Gene:: VSTM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.29563906A>C, NC_000019.9:g.30054813A>C, XM_011526902.3:c.830A>C, XM_011526902.2:c.830A>C, XM_011526902.1:c.830A>C, XM_011526903.3:c.800A>C, XM_011526903.2:c.800A>C, XM_011526903.1:c.800A>C, XM_011526905.3:c.638A>C, XM_011526905.2:c.638A>C, XM_011526905.1:c.638A>C, NM_001146339.2:c.830A>C, NM_001146339.1:c.830A>C, NM_001384640.1:c.800A>C, NM_001384641.1:c.692A>C, NM_001384642.1:c.662A>C, NM_001384643.1:c.566A>C, XP_011525204.1:p.Lys277Thr, XP_011525205.1:p.Lys267Thr, XP_011525207.1:p.Lys213Thr, NP_001139811.1:p.Lys277Thr, NP_001371569.1:p.Lys267Thr, NP_001371570.1:p.Lys231Thr, NP_001371571.1:p.Lys221Thr, NP_001371572.1:p.Lys189Thr

Select item 147781492312.

rs1477814923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29527336 (GRCh38)
19:30018243 (GRCh37)
Canonical SPDI:: NC_000019.10:29527335:G:A
Gene:: VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000063/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29527336G>A, NC_000019.9:g.30018243G>A, XM_011526902.3:c.208G>A, XM_011526902.2:c.208G>A, XM_011526902.1:c.208G>A, XM_011526903.3:c.208G>A, XM_011526903.2:c.208G>A, XM_011526903.1:c.208G>A, NM_001146339.2:c.208G>A, NM_001146339.1:c.208G>A, NM_001384640.1:c.208G>A, NM_001384641.1:c.70G>A, NM_001384642.1:c.70G>A, XP_011525204.1:p.Glu70Lys, XP_011525205.1:p.Glu70Lys, NP_001139811.1:p.Glu70Lys, NP_001371569.1:p.Glu70Lys, NP_001371570.1:p.Glu24Lys, NP_001371571.1:p.Glu24Lys

Select item 147370199113.

rs1473701991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:29529898 (GRCh38)
19:30020805 (GRCh37)
Canonical SPDI:: NC_000019.10:29529897:A:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.29529898A>T, NC_000019.9:g.30020805A>T, XM_011526902.3:c.377A>T, XM_011526902.2:c.377A>T, XM_011526902.1:c.377A>T, XM_011526903.3:c.347A>T, XM_011526903.2:c.347A>T, XM_011526903.1:c.347A>T, XM_011526905.3:c.185A>T, XM_011526905.2:c.185A>T, XM_011526905.1:c.185A>T, NM_001146339.2:c.377A>T, NM_001146339.1:c.377A>T, NM_001384640.1:c.347A>T, NM_001384641.1:c.239A>T, NM_001384642.1:c.209A>T, NM_001384643.1:c.113A>T, XP_011525204.1:p.Glu126Val, XP_011525205.1:p.Glu116Val, XP_011525207.1:p.Glu62Val, NP_001139811.1:p.Glu126Val, NP_001371569.1:p.Glu116Val, NP_001371570.1:p.Glu80Val, NP_001371571.1:p.Glu70Val, NP_001371572.1:p.Glu38Val

Select item 147167188214.

rs1471671882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:29529979 (GRCh38)
19:30020886 (GRCh37)
Canonical SPDI:: NC_000019.10:29529978:C:A,NC_000019.10:29529978:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29529979C>A, NC_000019.10:g.29529979C>T, NC_000019.9:g.30020886C>A, NC_000019.9:g.30020886C>T, XM_011526902.3:c.458C>A, XM_011526902.3:c.458C>T, XM_011526902.2:c.458C>A, XM_011526902.2:c.458C>T, XM_011526902.1:c.458C>A, XM_011526902.1:c.458C>T, XM_011526903.3:c.428C>A, XM_011526903.3:c.428C>T, XM_011526903.2:c.428C>A, XM_011526903.2:c.428C>T, XM_011526903.1:c.428C>A, XM_011526903.1:c.428C>T, XM_011526905.3:c.266C>A, XM_011526905.3:c.266C>T, XM_011526905.2:c.266C>A, XM_011526905.2:c.266C>T, XM_011526905.1:c.266C>A, XM_011526905.1:c.266C>T, NM_001146339.2:c.458C>A, NM_001146339.2:c.458C>T, NM_001146339.1:c.458C>A, NM_001146339.1:c.458C>T, NM_001384640.1:c.428C>A, NM_001384640.1:c.428C>T, NM_001384641.1:c.320C>A, NM_001384641.1:c.320C>T, NM_001384642.1:c.290C>A, NM_001384642.1:c.290C>T, NM_001384643.1:c.194C>A, NM_001384643.1:c.194C>T, XP_011525204.1:p.Ala153Glu, XP_011525204.1:p.Ala153Val, XP_011525205.1:p.Ala143Glu, XP_011525205.1:p.Ala143Val, XP_011525207.1:p.Ala89Glu, XP_011525207.1:p.Ala89Val, NP_001139811.1:p.Ala153Glu, NP_001139811.1:p.Ala153Val, NP_001371569.1:p.Ala143Glu, NP_001371569.1:p.Ala143Val, NP_001371570.1:p.Ala107Glu, NP_001371570.1:p.Ala107Val, NP_001371571.1:p.Ala97Glu, NP_001371571.1:p.Ala97Val, NP_001371572.1:p.Ala65Glu, NP_001371572.1:p.Ala65Val

Select item 147162993515.

rs1471629935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29527248 (GRCh38)
19:30018155 (GRCh37)
Canonical SPDI:: NC_000019.10:29527247:G:A
Gene:: VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.29527248G>A, NC_000019.9:g.30018155G>A, XM_011526902.3:c.120G>A, XM_011526902.2:c.120G>A, XM_011526902.1:c.120G>A, XM_011526903.3:c.120G>A, XM_011526903.2:c.120G>A, XM_011526903.1:c.120G>A, NM_001146339.2:c.120G>A, NM_001146339.1:c.120G>A, NM_001384640.1:c.120G>A, NM_001384641.1:c.-19G>A, NM_001384642.1:c.-19G>A

Select item 147057443816.

rs1470574438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29530196 (GRCh38)
19:30021103 (GRCh37)
Canonical SPDI:: NC_000019.10:29530195:C:T
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.29530196C>T, NC_000019.9:g.30021103C>T, XM_011526902.3:c.675C>T, XM_011526902.2:c.675C>T, XM_011526902.1:c.675C>T, XM_011526903.3:c.645C>T, XM_011526903.2:c.645C>T, XM_011526903.1:c.645C>T, XM_011526905.3:c.483C>T, XM_011526905.2:c.483C>T, XM_011526905.1:c.483C>T, NM_001146339.2:c.675C>T, NM_001146339.1:c.675C>T, NM_001384640.1:c.645C>T, NM_001384641.1:c.537C>T, NM_001384642.1:c.507C>T, NM_001384643.1:c.411C>T

Select item 146866813117.

rs1468668131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:29528441 (GRCh38)
19:30019348 (GRCh37)
Canonical SPDI:: NC_000019.10:29528440:T:C
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29528441T>C, NC_000019.9:g.30019348T>C, XM_011526902.3:c.276T>C, XM_011526902.2:c.276T>C, XM_011526902.1:c.276T>C, NM_001146339.2:c.276T>C, NM_001146339.1:c.276T>C, NM_001384641.1:c.138T>C

Select item 146832624818.

rs1468326248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:29530213 (GRCh38)
19:30021120 (GRCh37)
Canonical SPDI:: NC_000019.10:29530212:T:C
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.29530213T>C, NC_000019.9:g.30021120T>C, XM_011526902.3:c.692T>C, XM_011526902.2:c.692T>C, XM_011526902.1:c.692T>C, XM_011526903.3:c.662T>C, XM_011526903.2:c.662T>C, XM_011526903.1:c.662T>C, XM_011526905.3:c.500T>C, XM_011526905.2:c.500T>C, XM_011526905.1:c.500T>C, NM_001146339.2:c.692T>C, NM_001146339.1:c.692T>C, NM_001384640.1:c.662T>C, NM_001384641.1:c.554T>C, NM_001384642.1:c.524T>C, NM_001384643.1:c.428T>C, XP_011525204.1:p.Val231Ala, XP_011525205.1:p.Val221Ala, XP_011525207.1:p.Val167Ala, NP_001139811.1:p.Val231Ala, NP_001371569.1:p.Val221Ala, NP_001371570.1:p.Val185Ala, NP_001371571.1:p.Val175Ala, NP_001371572.1:p.Val143Ala

Select item 146678773319.

rs1466787733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:29530259 (GRCh38)
19:30021166 (GRCh37)
Canonical SPDI:: NC_000019.10:29530258:G:C
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29530259G>C, NC_000019.9:g.30021166G>C, XM_011526902.3:c.738G>C, XM_011526902.2:c.738G>C, XM_011526902.1:c.738G>C, XM_011526903.3:c.708G>C, XM_011526903.2:c.708G>C, XM_011526903.1:c.708G>C, XM_011526905.3:c.546G>C, XM_011526905.2:c.546G>C, XM_011526905.1:c.546G>C, NM_001146339.2:c.738G>C, NM_001146339.1:c.738G>C, NM_001384640.1:c.708G>C, NM_001384641.1:c.600G>C, NM_001384642.1:c.570G>C, NM_001384643.1:c.474G>C, XP_011525204.1:p.Gln246His, XP_011525205.1:p.Gln236His, XP_011525207.1:p.Gln182His, NP_001139811.1:p.Gln246His, NP_001371569.1:p.Gln236His, NP_001371570.1:p.Gln200His, NP_001371571.1:p.Gln190His, NP_001371572.1:p.Gln158His

Select item 146559159820.

rs1465591598 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:29530261 (GRCh38)
19:30021168 (GRCh37)
Canonical SPDI:: NC_000019.10:29530260:C:
Gene:: VSTM2B (Varview), LOC124904683 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29530261del, NC_000019.9:g.30021168del, XM_011526902.3:c.740del, XM_011526902.2:c.740del, XM_011526902.1:c.740del, XM_011526903.3:c.710del, XM_011526903.2:c.710del, XM_011526903.1:c.710del, XM_011526905.3:c.548del, XM_011526905.2:c.548del, XM_011526905.1:c.548del, NM_001146339.2:c.740del, NM_001146339.1:c.740del, NM_001384640.1:c.710del, NM_001384641.1:c.602del, NM_001384642.1:c.572del, NM_001384643.1:c.476del, XP_011525204.1:p.Ala247fs, XP_011525205.1:p.Ala237fs, XP_011525207.1:p.Ala183fs, NP_001139811.1:p.Ala247fs, NP_001371569.1:p.Ala237fs, NP_001371570.1:p.Ala201fs, NP_001371571.1:p.Ala191fs, NP_001371572.1:p.Ala159fs

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