SNP Links for Protein (Select 4759012) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13709196 (GRCh38)
X:13727315 (GRCh37)
Canonical SPDI:: NC_000023.11:13709195:T:C
Gene:: RAB9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000342/1 (KOREAN)
C=0.00072/9 (TOMMO)
HGVS:: NC_000023.11:g.13709196T>C, NC_000023.10:g.13727315T>C, NM_004251.5:c.450T>C, NM_004251.4:c.450T>C, NM_001195328.2:c.450T>C, NM_001195328.1:c.450T>C, XM_047442644.1:c.450T>C, XM_047442645.1:c.450T>C

Select item 14293966158.

rs1429396615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:13708780 (GRCh38)
X:13726899 (GRCh37)
Canonical SPDI:: NC_000023.11:13708779:C:A,NC_000023.11:13708779:C:T
Gene:: RAB9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.13708780C>A, NC_000023.11:g.13708780C>T, NC_000023.10:g.13726899C>A, NC_000023.10:g.13726899C>T, NM_004251.5:c.34C>A, NM_004251.5:c.34C>T, NM_004251.4:c.34C>A, NM_004251.4:c.34C>T, NM_001195328.2:c.34C>A, NM_001195328.2:c.34C>T, NM_001195328.1:c.34C>A, NM_001195328.1:c.34C>T, XM_047442644.1:c.34C>A, XM_047442644.1:c.34C>T, XM_047442645.1:c.34C>A, XM_047442645.1:c.34C>T, NP_004242.1:p.Leu12Ile, NP_004242.1:p.Leu12Phe, NP_001182257.1:p.Leu12Ile, NP_001182257.1:p.Leu12Phe, XP_047298600.1:p.Leu12Ile, XP_047298600.1:p.Leu12Phe, XP_047298601.1:p.Leu12Ile, XP_047298601.1:p.Leu12Phe

Select item 14265730009.

rs1426573000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13709176 (GRCh38)
X:13727295 (GRCh37)
Canonical SPDI:: NC_000023.11:13709175:G:A
Gene:: RAB9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13709176G>A, NC_000023.10:g.13727295G>A, NM_004251.5:c.430G>A, NM_004251.4:c.430G>A, NM_001195328.2:c.430G>A, NM_001195328.1:c.430G>A, XM_047442644.1:c.430G>A, XM_047442645.1:c.430G>A, NP_004242.1:p.Asp144Asn, NP_001182257.1:p.Asp144Asn, XP_047298600.1:p.Asp144Asn, XP_047298601.1:p.Asp144Asn

Select item 142254346110.

rs1422543461 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: X:13708836 (GRCh38)
X:13726956 (GRCh37)
Canonical SPDI:: NC_000023.11:13708836::TTA
Gene:: RAB9A (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: TTA=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13708836_13708837insTTA, NC_000023.10:g.13726955_13726956insTTA, NM_004251.5:c.90_91insTTA, NM_004251.4:c.90_91insTTA, NM_001195328.2:c.90_91insTTA, NM_001195328.1:c.90_91insTTA, XM_047442644.1:c.90_91insTTA, XM_047442645.1:c.90_91insTTA, NP_004242.1:p.Lys31_Phe32insLeu, NP_001182257.1:p.Lys31_Phe32insLeu, XP_047298600.1:p.Lys31_Phe32insLeu, XP_047298601.1:p.Lys31_Phe32insLeu

Select item 141836232211.

rs1418362322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13709339 (GRCh38)
X:13727458 (GRCh37)
Canonical SPDI:: NC_000023.11:13709338:C:T
Gene:: RAB9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13709339C>T, NC_000023.10:g.13727458C>T, NM_004251.5:c.593C>T, NM_004251.4:c.593C>T, NM_001195328.2:c.593C>T, NM_001195328.1:c.593C>T, XM_047442644.1:c.593C>T, XM_047442645.1:c.593C>T, NP_004242.1:p.Ser198Leu, NP_001182257.1:p.Ser198Leu, XP_047298600.1:p.Ser198Leu, XP_047298601.1:p.Ser198Leu

Select item 141710809112.

rs1417108091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:13708929 (GRCh38)
X:13727048 (GRCh37)
Canonical SPDI:: NC_000023.11:13708928:G:C
Gene:: RAB9A (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_000023.11:g.13708929G>C, NC_000023.10:g.13727048G>C, NM_004251.5:c.183G>C, NM_004251.4:c.183G>C, NM_001195328.2:c.183G>C, NM_001195328.1:c.183G>C, XM_047442644.1:c.183G>C, XM_047442645.1:c.183G>C, NP_004242.1:p.Trp61Cys, NP_001182257.1:p.Trp61Cys, XP_047298600.1:p.Trp61Cys, XP_047298601.1:p.Trp61Cys

Select item 141008820813.

rs1410088208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:13709150 (GRCh38)
X:13727269 (GRCh37)
Canonical SPDI:: NC_000023.11:13709149:C:G
Gene:: RAB9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.13709150C>G, NC_000023.10:g.13727269C>G, NM_004251.5:c.404C>G, NM_004251.4:c.404C>G, NM_001195328.2:c.404C>G, NM_001195328.1:c.404C>G, XM_047442644.1:c.404C>G, XM_047442645.1:c.404C>G, NP_004242.1:p.Thr135Arg, NP_001182257.1:p.Thr135Arg, XP_047298600.1:p.Thr135Arg, XP_047298601.1:p.Thr135Arg

Select item 140344423214.

rs1403444232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13709074 (GRCh38)
X:13727193 (GRCh37)
Canonical SPDI:: NC_000023.11:13709073:G:A
Gene:: RAB9A (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=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13709074G>A, NC_000023.10:g.13727193G>A, NM_004251.5:c.328G>A, NM_004251.4:c.328G>A, NM_001195328.2:c.328G>A, NM_001195328.1:c.328G>A, XM_047442644.1:c.328G>A, XM_047442645.1:c.328G>A, NP_004242.1:p.Asp110Asn, NP_001182257.1:p.Asp110Asn, XP_047298600.1:p.Asp110Asn, XP_047298601.1:p.Asp110Asn

Select item 138442138815.

rs1384421388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13708803 (GRCh38)
X:13726922 (GRCh37)
Canonical SPDI:: NC_000023.11:13708802:G:A
Gene:: RAB9A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.13708803G>A, NC_000023.10:g.13726922G>A, NM_004251.5:c.57G>A, NM_004251.4:c.57G>A, NM_001195328.2:c.57G>A, NM_001195328.1:c.57G>A, XM_047442644.1:c.57G>A, XM_047442645.1:c.57G>A

Select item 138247668416.

rs1382476684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13708919 (GRCh38)
X:13727038 (GRCh37)
Canonical SPDI:: NC_000023.11:13708918:T:C
Gene:: RAB9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.13708919T>C, NC_000023.10:g.13727038T>C, NM_004251.5:c.173T>C, NM_004251.4:c.173T>C, NM_001195328.2:c.173T>C, NM_001195328.1:c.173T>C, XM_047442644.1:c.173T>C, XM_047442645.1:c.173T>C, NP_004242.1:p.Met58Thr, NP_001182257.1:p.Met58Thr, XP_047298600.1:p.Met58Thr, XP_047298601.1:p.Met58Thr

Select item 137478821517.

rs1374788215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:13709229 (GRCh38)
X:13727348 (GRCh37)
Canonical SPDI:: NC_000023.11:13709228:G:C
Gene:: RAB9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13709229G>C, NC_000023.10:g.13727348G>C, NM_004251.5:c.483G>C, NM_004251.4:c.483G>C, NM_001195328.2:c.483G>C, NM_001195328.1:c.483G>C, XM_047442644.1:c.483G>C, XM_047442645.1:c.483G>C

Select item 137299187218.

rs1372991872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13708827 (GRCh38)
X:13726946 (GRCh37)
Canonical SPDI:: NC_000023.11:13708826:T:C
Gene:: RAB9A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13708827T>C, NC_000023.10:g.13726946T>C, NM_004251.5:c.81T>C, NM_004251.4:c.81T>C, NM_001195328.2:c.81T>C, NM_001195328.1:c.81T>C, XM_047442644.1:c.81T>C, XM_047442645.1:c.81T>C

Select item 135255607019.

rs1352556070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13708888 (GRCh38)
X:13727007 (GRCh37)
Canonical SPDI:: NC_000023.11:13708887:G:A
Gene:: RAB9A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000895/4 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13708888G>A, NC_000023.10:g.13727007G>A, NM_004251.5:c.142G>A, NM_004251.4:c.142G>A, NM_001195328.2:c.142G>A, NM_001195328.1:c.142G>A, XM_047442644.1:c.142G>A, XM_047442645.1:c.142G>A, NP_004242.1:p.Asp48Asn, NP_001182257.1:p.Asp48Asn, XP_047298600.1:p.Asp48Asn, XP_047298601.1:p.Asp48Asn

Select item 131623975920.

rs1316239759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13709084 (GRCh38)
X:13727203 (GRCh37)
Canonical SPDI:: NC_000023.11:13709083:A:G
Gene:: RAB9A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.13709084A>G, NC_000023.10:g.13727203A>G, NM_004251.5:c.338A>G, NM_004251.4:c.338A>G, NM_001195328.2:c.338A>G, NM_001195328.1:c.338A>G, XM_047442644.1:c.338A>G, XM_047442645.1:c.338A>G, NP_004242.1:p.Glu113Gly, NP_001182257.1:p.Glu113Gly, XP_047298600.1:p.Glu113Gly, XP_047298601.1:p.Glu113Gly

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