SNP Links for Protein (Select 7705963) - SNP

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Links from Protein

Items: 1 to 20 of 101

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Select item 14841452781.

rs1484145278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103825756 (GRCh38)
X:103080686 (GRCh37)
Canonical SPDI:: NC_000023.11:103825755:A:G
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.103825756A>G, NC_000023.10:g.103080686A>G, NG_016452.2:g.11527T>C, NM_016370.4:c.29T>C, NM_016370.3:c.29T>C, NM_016370.2:c.29T>C, NP_057454.1:p.Val10Ala

Select item 14832646542.

rs1483264654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103825643 (GRCh38)
X:103080573 (GRCh37)
Canonical SPDI:: NC_000023.11:103825642:C:T
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825643C>T, NC_000023.10:g.103080573C>T, NG_016452.2:g.11640G>A, NM_016370.4:c.142G>A, NM_016370.3:c.142G>A, NM_016370.2:c.142G>A, NP_057454.1:p.Asp48Asn

Select item 14776370083.

rs1477637008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825650 (GRCh38)
X:103080580 (GRCh37)
Canonical SPDI:: NC_000023.11:103825649:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825650T>C, NC_000023.10:g.103080580T>C, NG_016452.2:g.11633A>G, NM_016370.4:c.135A>G, NM_016370.3:c.135A>G, NM_016370.2:c.135A>G

Select item 14727694944.

rs1472769494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103825489 (GRCh38)
X:103080419 (GRCh37)
Canonical SPDI:: NC_000023.11:103825488:C:T
Gene:: RAB9B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825489C>T, NC_000023.10:g.103080419C>T, NG_016452.2:g.11794G>A, NM_016370.4:c.296G>A, NM_016370.3:c.296G>A, NM_016370.2:c.296G>A, NP_057454.1:p.Gly99Asp

Select item 14724802035.

rs1472480203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103825293 (GRCh38)
X:103080223 (GRCh37)
Canonical SPDI:: NC_000023.11:103825292:G:A
Gene:: RAB9B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103825293G>A, NC_000023.10:g.103080223G>A, NG_016452.2:g.11990C>T, NM_016370.4:c.492C>T, NM_016370.3:c.492C>T, NM_016370.2:c.492C>T

Select item 14419196656.

rs1441919665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825438 (GRCh38)
X:103080368 (GRCh37)
Canonical SPDI:: NC_000023.11:103825437:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825438T>C, NC_000023.10:g.103080368T>C, NG_016452.2:g.11845A>G, NM_016370.4:c.347A>G, NM_016370.3:c.347A>G, NM_016370.2:c.347A>G, NP_057454.1:p.His116Arg

Select item 14382739657.

rs1438273965 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:103825184 (GRCh38)
X:103080114 (GRCh37)
Canonical SPDI:: NC_000023.11:103825183:A:
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825184del, NC_000023.10:g.103080114del, NG_016452.2:g.12099del, NM_016370.4:c.601del, NM_016370.3:c.601del, NM_016370.2:c.601del, NP_057454.1:p.Cys201fs

Select item 14361177088.

rs1436117708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:103825619 (GRCh38)
X:103080549 (GRCh37)
Canonical SPDI:: NC_000023.11:103825618:C:A
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.103825619C>A, NC_000023.10:g.103080549C>A, NG_016452.2:g.11664G>T, NM_016370.4:c.166G>T, NM_016370.3:c.166G>T, NM_016370.2:c.166G>T, NP_057454.1:p.Val56Leu

Select item 14266914029.

rs1426691402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825667 (GRCh38)
X:103080597 (GRCh37)
Canonical SPDI:: NC_000023.11:103825666:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825667T>C, NC_000023.10:g.103080597T>C, NG_016452.2:g.11616A>G, NM_016370.4:c.118A>G, NM_016370.3:c.118A>G, NM_016370.2:c.118A>G, NP_057454.1:p.Ile40Val

Select item 142377183710.

rs1423771837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:103825692 (GRCh38)
X:103080622 (GRCh37)
Canonical SPDI:: NC_000023.11:103825691:T:A
Gene:: RAB9B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103825692T>A, NC_000023.10:g.103080622T>A, NG_016452.2:g.11591A>T, NM_016370.4:c.93A>T, NM_016370.3:c.93A>T, NM_016370.2:c.93A>T, NP_057454.1:p.Lys31Asn

Select item 141614842611.

rs1416148426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825310 (GRCh38)
X:103080240 (GRCh37)
Canonical SPDI:: NC_000023.11:103825309:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/2 (GnomAD_exomes)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103825310T>C, NC_000023.10:g.103080240T>C, NG_016452.2:g.11973A>G, NM_016370.4:c.475A>G, NM_016370.3:c.475A>G, NM_016370.2:c.475A>G, NP_057454.1:p.Thr159Ala

Select item 141213174212.

rs1412131742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103825698 (GRCh38)
X:103080628 (GRCh37)
Canonical SPDI:: NC_000023.11:103825697:G:A
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825698G>A, NC_000023.10:g.103080628G>A, NG_016452.2:g.11585C>T, NM_016370.4:c.87C>T, NM_016370.3:c.87C>T, NM_016370.2:c.87C>T

Select item 141100494513.

rs1411004945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103825459 (GRCh38)
X:103080389 (GRCh37)
Canonical SPDI:: NC_000023.11:103825458:G:A
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103825459G>A, NC_000023.10:g.103080389G>A, NG_016452.2:g.11824C>T, NM_016370.4:c.326C>T, NM_016370.3:c.326C>T, NM_016370.2:c.326C>T, NP_057454.1:p.Ala109Val

Select item 140317515114.

rs1403175151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825345 (GRCh38)
X:103080275 (GRCh37)
Canonical SPDI:: NC_000023.11:103825344:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.103825345T>C, NC_000023.10:g.103080275T>C, NG_016452.2:g.11938A>G, NM_016370.4:c.440A>G, NM_016370.3:c.440A>G, NM_016370.2:c.440A>G, NP_057454.1:p.Asp147Gly

Select item 138788152115.

rs1387881521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103825341 (GRCh38)
X:103080271 (GRCh37)
Canonical SPDI:: NC_000023.11:103825340:G:A
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103825341G>A, NC_000023.10:g.103080271G>A, NG_016452.2:g.11942C>T, NM_016370.4:c.444C>T, NM_016370.3:c.444C>T, NM_016370.2:c.444C>T

Select item 138043682216.

rs1380436822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103825326 (GRCh38)
X:103080256 (GRCh37)
Canonical SPDI:: NC_000023.11:103825325:A:G
Gene:: RAB9B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.103825326A>G, NC_000023.10:g.103080256A>G, NG_016452.2:g.11957T>C, NM_016370.4:c.459T>C, NM_016370.3:c.459T>C, NM_016370.2:c.459T>C

Select item 137590449017.

rs1375904490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:103825646 (GRCh38)
X:103080576 (GRCh37)
Canonical SPDI:: NC_000023.11:103825645:G:A,NC_000023.11:103825645:G:C
Gene:: RAB9B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103825646G>A, NC_000023.11:g.103825646G>C, NC_000023.10:g.103080576G>A, NC_000023.10:g.103080576G>C, NG_016452.2:g.11637C>T, NG_016452.2:g.11637C>G, NM_016370.4:c.139C>T, NM_016370.4:c.139C>G, NM_016370.3:c.139C>T, NM_016370.3:c.139C>G, NM_016370.2:c.139C>T, NM_016370.2:c.139C>G, NP_057454.1:p.Arg47Ter, NP_057454.1:p.Arg47Gly

Select item 137078044618.

rs1370780446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103825686 (GRCh38)
X:103080616 (GRCh37)
Canonical SPDI:: NC_000023.11:103825685:G:A
Gene:: RAB9B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.103825686G>A, NC_000023.10:g.103080616G>A, NG_016452.2:g.11597C>T, NM_016370.4:c.99C>T, NM_016370.3:c.99C>T, NM_016370.2:c.99C>T

Select item 136730659019.

rs1367306590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825450 (GRCh38)
X:103080380 (GRCh37)
Canonical SPDI:: NC_000023.11:103825449:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103825450T>C, NC_000023.10:g.103080380T>C, NG_016452.2:g.11833A>G, NM_016370.4:c.335A>G, NM_016370.3:c.335A>G, NM_016370.2:c.335A>G, NP_057454.1:p.Lys112Arg

Select item 135842127220.

rs1358421272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103825385 (GRCh38)
X:103080315 (GRCh37)
Canonical SPDI:: NC_000023.11:103825384:T:C
Gene:: RAB9B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103825385T>C, NC_000023.10:g.103080315T>C, NG_016452.2:g.11898A>G, NM_016370.4:c.400A>G, NM_016370.3:c.400A>G, NM_016370.2:c.400A>G, NP_057454.1:p.Thr134Ala