SNP Links for Protein (Select 41327694) - SNP

Links from Protein

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Select item 14880821481.

rs1488082148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:36605999 (GRCh38)
20:35234402 (GRCh37)
Canonical SPDI:: NC_000020.11:36605998:C:T
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.36605999C>T, NC_000020.10:g.35234402C>T, NM_018840.5:c.48C>T, NM_018840.4:c.48C>T, NR_026562.4:n.221C>T, NR_026562.3:n.266C>T, NM_199483.3:c.48C>T, NM_199483.2:c.48C>T, NM_001199534.2:c.48C>T, NM_001199534.1:c.48C>T, NR_164351.1:n.221C>T, NM_199484.1:c.48C>T, NM_001374178.1:c.48C>T, NM_199485.1:c.48C>T, NR_164350.1:n.221C>T

Select item 14875392132.

rs1487539213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36607782 (GRCh38)
20:35236185 (GRCh37)
Canonical SPDI:: NC_000020.11:36607781:G:A
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000020.11:g.36607782G>A, NC_000020.10:g.35236185G>A, NM_018840.5:c.182G>A, NM_018840.4:c.182G>A, NR_026562.4:n.355G>A, NR_026562.3:n.400G>A, NM_199483.3:c.182G>A, NM_199483.2:c.182G>A, NM_001199535.2:c.260G>A, NM_001199535.1:c.260G>A, NM_001199534.2:c.182G>A, NM_001199534.1:c.182G>A, NR_164351.1:n.355G>A, NM_199484.1:c.182G>A, NM_001374178.1:c.182G>A, NM_199485.1:c.182G>A, NR_164350.1:n.355G>A, NP_061328.1:p.Gly61Glu, NP_955777.1:p.Gly61Glu, NP_001186464.1:p.Gly87Glu, NP_001186463.1:p.Gly61Glu, NP_001361107.1:p.Gly61Glu

Select item 14800849493.

rs1480084949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:36612018 (GRCh38)
20:35240421 (GRCh37)
Canonical SPDI:: NC_000020.11:36612017:G:A,NC_000020.11:36612017:G:C
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000020.11:g.36612018G>A, NC_000020.11:g.36612018G>C, NC_000020.10:g.35240421G>A, NC_000020.10:g.35240421G>C, NG_031823.2:g.39199C>T, NG_031823.2:g.39199C>G, NM_018840.5:c.357G>A, NM_018840.5:c.357G>C, NM_018840.4:c.357G>A, NM_018840.4:c.357G>C, NR_026562.4:n.641G>A, NR_026562.4:n.641G>C, NR_026562.3:n.686G>A, NR_026562.3:n.686G>C, NM_199483.3:c.227G>A, NM_199483.3:c.227G>C, NM_199483.2:c.227G>A, NM_199483.2:c.227G>C, NM_001199535.2:c.435G>A, NM_001199535.2:c.435G>C, NM_001199535.1:c.435G>A, NM_001199535.1:c.435G>C, NM_001199534.2:c.385G>A, NM_001199534.2:c.385G>C, NM_001199534.1:c.385G>A, NM_001199534.1:c.385G>C, NR_164351.1:n.662G>A, NR_164351.1:n.662G>C, NM_199484.1:c.*204G>A, NM_199484.1:c.*204G>C, NM_001374178.1:c.*9G>A, NM_001374178.1:c.*9G>C, NM_199485.1:c.*74G>A, NM_199485.1:c.*74G>C, NR_164350.1:n.511G>A, NR_164350.1:n.511G>C, NP_061328.1:p.Trp119Ter, NP_061328.1:p.Trp119Cys, NP_955777.1:p.Gly76Glu, NP_955777.1:p.Gly76Ala, NP_001186464.1:p.Trp145Ter, NP_001186464.1:p.Trp145Cys, NP_001186463.1:p.Asp129Asn, NP_001186463.1:p.Asp129His

Select item 14787769844.

rs1478776984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:36606009 (GRCh38)
20:35234412 (GRCh37)
Canonical SPDI:: NC_000020.11:36606008:C:T
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.36606009C>T, NC_000020.10:g.35234412C>T, NM_018840.5:c.58C>T, NM_018840.4:c.58C>T, NR_026562.4:n.231C>T, NR_026562.3:n.276C>T, NM_199483.3:c.58C>T, NM_199483.2:c.58C>T, NM_001199534.2:c.58C>T, NM_001199534.1:c.58C>T, NR_164351.1:n.231C>T, NM_199484.1:c.58C>T, NM_001374178.1:c.58C>T, NM_199485.1:c.58C>T, NR_164350.1:n.231C>T, NP_061328.1:p.Leu20Phe, NP_955777.1:p.Leu20Phe, NP_001186463.1:p.Leu20Phe, NP_001361107.1:p.Leu20Phe

Select item 14762694925.

rs1476269492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:36607759 (GRCh38)
20:35236162 (GRCh37)
Canonical SPDI:: NC_000020.11:36607758:T:C
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.36607759T>C, NC_000020.10:g.35236162T>C, NM_018840.5:c.159T>C, NM_018840.4:c.159T>C, NR_026562.4:n.332T>C, NR_026562.3:n.377T>C, NM_199483.3:c.159T>C, NM_199483.2:c.159T>C, NM_001199535.2:c.237T>C, NM_001199535.1:c.237T>C, NM_001199534.2:c.159T>C, NM_001199534.1:c.159T>C, NR_164351.1:n.332T>C, NM_199484.1:c.159T>C, NM_001374178.1:c.159T>C, NM_199485.1:c.159T>C, NR_164350.1:n.332T>C

Select item 14644935236.

rs1464493523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36607808 (GRCh38)
20:35236211 (GRCh37)
Canonical SPDI:: NC_000020.11:36607807:G:A
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.36607808G>A, NC_000020.10:g.35236211G>A, NM_018840.5:c.208G>A, NM_018840.4:c.208G>A, NR_026562.4:n.381G>A, NR_026562.3:n.426G>A, NM_199483.3:c.208G>A, NM_199483.2:c.208G>A, NM_001199535.2:c.286G>A, NM_001199535.1:c.286G>A, NM_001199534.2:c.208G>A, NM_001199534.1:c.208G>A, NR_164351.1:n.381G>A, NM_199484.1:c.208G>A, NM_001374178.1:c.208G>A, NM_199485.1:c.208G>A, NR_164350.1:n.381G>A, NP_061328.1:p.Gly70Arg, NP_955777.1:p.Gly70Arg, NP_001186464.1:p.Gly96Arg, NP_001186463.1:p.Gly70Arg, NP_001361107.1:p.Gly70Arg

Select item 14643081377.

rs1464308137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36606026 (GRCh38)
20:35234429 (GRCh37)
Canonical SPDI:: NC_000020.11:36606025:G:A
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Clinical significance:: pathogenic,likely-pathogenic
HGVS:: NC_000020.11:g.36606026G>A, NC_000020.10:g.35234429G>A, NM_018840.5:c.75G>A, NM_018840.4:c.75G>A, NR_026562.4:n.248G>A, NR_026562.3:n.293G>A, NM_199483.3:c.75G>A, NM_199483.2:c.75G>A, NM_001199534.2:c.75G>A, NM_001199534.1:c.75G>A, NR_164351.1:n.248G>A, NM_199484.1:c.75G>A, NM_001374178.1:c.75G>A, NM_199485.1:c.75G>A, NR_164350.1:n.248G>A, NP_061328.1:p.Trp25Ter, NP_955777.1:p.Trp25Ter, NP_001186463.1:p.Trp25Ter, NP_001361107.1:p.Trp25Ter

Select item 14547630128.

rs1454763012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:36612095 (GRCh38)
20:35240498 (GRCh37)
Canonical SPDI:: NC_000020.11:36612094:C:G
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.36612095C>G, NC_000020.10:g.35240498C>G, NG_031823.2:g.39122G>C, NM_018840.5:c.*44C>G, NM_018840.4:c.*44C>G, NR_026562.4:n.718C>G, NR_026562.3:n.763C>G, NM_199483.3:c.304C>G, NM_199483.2:c.304C>G, NM_001199535.2:c.*44C>G, NM_001199535.1:c.*44C>G, NM_001199534.2:c.*48C>G, NM_001199534.1:c.*48C>G, NR_164351.1:n.739C>G, NM_199484.1:c.*281C>G, NM_001374178.1:c.*86C>G, NM_199485.1:c.*151C>G, NR_164350.1:n.588C>G, NP_955777.1:p.Leu102Val

Select item 14544509249.

rs1454450924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:36612022 (GRCh38)
20:35240425 (GRCh37)
Canonical SPDI:: NC_000020.11:36612021:A:G,NC_000020.11:36612021:A:T
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.36612022A>G, NC_000020.11:g.36612022A>T, NC_000020.10:g.35240425A>G, NC_000020.10:g.35240425A>T, NG_031823.2:g.39195T>C, NG_031823.2:g.39195T>A, NM_018840.5:c.361A>G, NM_018840.5:c.361A>T, NM_018840.4:c.361A>G, NM_018840.4:c.361A>T, NR_026562.4:n.645A>G, NR_026562.4:n.645A>T, NR_026562.3:n.690A>G, NR_026562.3:n.690A>T, NM_199483.3:c.231A>G, NM_199483.3:c.231A>T, NM_199483.2:c.231A>G, NM_199483.2:c.231A>T, NM_001199535.2:c.439A>G, NM_001199535.2:c.439A>T, NM_001199535.1:c.439A>G, NM_001199535.1:c.439A>T, NM_001199534.2:c.389A>G, NM_001199534.2:c.389A>T, NM_001199534.1:c.389A>G, NM_001199534.1:c.389A>T, NR_164351.1:n.666A>G, NR_164351.1:n.666A>T, NM_199484.1:c.*208A>G, NM_199484.1:c.*208A>T, NM_001374178.1:c.*13A>G, NM_001374178.1:c.*13A>T, NM_199485.1:c.*78A>G, NM_199485.1:c.*78A>T, NR_164350.1:n.515A>G, NR_164350.1:n.515A>T, NP_061328.1:p.Ile121Val, NP_061328.1:p.Ile121Phe, NP_001186464.1:p.Ile147Val, NP_001186464.1:p.Ile147Phe, NP_001186463.1:p.His130Arg, NP_001186463.1:p.His130Leu

Select item 144378387910.

rs1443783879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:36606002 (GRCh38)
20:35234405 (GRCh37)
Canonical SPDI:: NC_000020.11:36606001:C:T
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.36606002C>T, NC_000020.10:g.35234405C>T, NM_018840.5:c.51C>T, NM_018840.4:c.51C>T, NR_026562.4:n.224C>T, NR_026562.3:n.269C>T, NM_199483.3:c.51C>T, NM_199483.2:c.51C>T, NM_001199534.2:c.51C>T, NM_001199534.1:c.51C>T, NR_164351.1:n.224C>T, NM_199484.1:c.51C>T, NM_001374178.1:c.51C>T, NM_199485.1:c.51C>T, NR_164350.1:n.224C>T

Select item 144029707911.

rs1440297079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:36612199 (GRCh38)
20:35240602 (GRCh37)
Canonical SPDI:: NC_000020.11:36612198:G:A,NC_000020.11:36612198:G:C
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.36612199G>A, NC_000020.11:g.36612199G>C, NC_000020.10:g.35240602G>A, NC_000020.10:g.35240602G>C, NG_031823.2:g.39018C>T, NG_031823.2:g.39018C>G, NM_018840.5:c.*148G>A, NM_018840.5:c.*148G>C, NM_018840.4:c.*148G>A, NM_018840.4:c.*148G>C, NR_026562.4:n.822G>A, NR_026562.4:n.822G>C, NR_026562.3:n.867G>A, NR_026562.3:n.867G>C, NM_199483.3:c.408G>A, NM_199483.3:c.408G>C, NM_199483.2:c.408G>A, NM_199483.2:c.408G>C, NM_001199535.2:c.*148G>A, NM_001199535.2:c.*148G>C, NM_001199535.1:c.*148G>A, NM_001199535.1:c.*148G>C, NM_001199534.2:c.*152G>A, NM_001199534.2:c.*152G>C, NM_001199534.1:c.*152G>A, NM_001199534.1:c.*152G>C, NR_164351.1:n.843G>A, NR_164351.1:n.843G>C, NM_199484.1:c.*385G>A, NM_199484.1:c.*385G>C, NM_001374178.1:c.*190G>A, NM_001374178.1:c.*190G>C, NM_199485.1:c.*255G>A, NM_199485.1:c.*255G>C, NR_164350.1:n.692G>A, NR_164350.1:n.692G>C

Select item 143866833712.

rs1438668337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:36612088 (GRCh38)
20:35240491 (GRCh37)
Canonical SPDI:: NC_000020.11:36612087:A:G
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.36612088A>G, NC_000020.10:g.35240491A>G, NG_031823.2:g.39129T>C, NM_018840.5:c.*37A>G, NM_018840.4:c.*37A>G, NR_026562.4:n.711A>G, NR_026562.3:n.756A>G, NM_199483.3:c.297A>G, NM_199483.2:c.297A>G, NM_001199535.2:c.*37A>G, NM_001199535.1:c.*37A>G, NM_001199534.2:c.*41A>G, NM_001199534.1:c.*41A>G, NR_164351.1:n.732A>G, NM_199484.1:c.*274A>G, NM_001374178.1:c.*79A>G, NM_199485.1:c.*144A>G, NR_164350.1:n.581A>G

Select item 143352224913.

rs1433522249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36612107 (GRCh38)
20:35240510 (GRCh37)
Canonical SPDI:: NC_000020.11:36612106:G:A
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.36612107G>A, NC_000020.10:g.35240510G>A, NG_031823.2:g.39110C>T, NM_018840.5:c.*56G>A, NM_018840.4:c.*56G>A, NR_026562.4:n.730G>A, NR_026562.3:n.775G>A, NM_199483.3:c.316G>A, NM_199483.2:c.316G>A, NM_001199535.2:c.*56G>A, NM_001199535.1:c.*56G>A, NM_001199534.2:c.*60G>A, NM_001199534.1:c.*60G>A, NR_164351.1:n.751G>A, NM_199484.1:c.*293G>A, NM_001374178.1:c.*98G>A, NM_199485.1:c.*163G>A, NR_164350.1:n.600G>A, NP_955777.1:p.Ala106Thr

Select item 143136666414.

rs1431366664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:36606062 (GRCh38)
20:35234465 (GRCh37)
Canonical SPDI:: NC_000020.11:36606061:T:A
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000020.11:g.36606062T>A, NC_000020.10:g.35234465T>A, NM_018840.5:c.111T>A, NM_018840.4:c.111T>A, NR_026562.4:n.284T>A, NR_026562.3:n.329T>A, NM_199483.3:c.111T>A, NM_199483.2:c.111T>A, NM_001199534.2:c.111T>A, NM_001199534.1:c.111T>A, NR_164351.1:n.284T>A, NM_199484.1:c.111T>A, NM_001374178.1:c.111T>A, NM_199485.1:c.111T>A, NR_164350.1:n.284T>A, NP_061328.1:p.Asp37Glu, NP_955777.1:p.Asp37Glu, NP_001186463.1:p.Asp37Glu, NP_001361107.1:p.Asp37Glu

Select item 142864372815.

rs1428643728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:36612028 (GRCh38)
20:35240431 (GRCh37)
Canonical SPDI:: NC_000020.11:36612027:T:A
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,stop_gained,missense_variant,downstream_transcript_variant,3_prime_UTR_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_000020.11:g.36612028T>A, NC_000020.10:g.35240431T>A, NG_031823.2:g.39189A>T, NM_018840.5:c.367T>A, NM_018840.4:c.367T>A, NR_026562.4:n.651T>A, NR_026562.3:n.696T>A, NM_199483.3:c.237T>A, NM_199483.2:c.237T>A, NM_001199535.2:c.445T>A, NM_001199535.1:c.445T>A, NM_001199534.2:c.395T>A, NM_001199534.1:c.395T>A, NR_164351.1:n.672T>A, NM_199484.1:c.*214T>A, NM_001374178.1:c.*19T>A, NM_199485.1:c.*84T>A, NR_164350.1:n.521T>A, NP_061328.1:p.Tyr123Asn, NP_955777.1:p.Phe79Leu, NP_001186464.1:p.Tyr149Asn, NP_001186463.1:p.Leu132Ter

Select item 141766761916.

rs1417667619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36607715 (GRCh38)
20:35236118 (GRCh37)
Canonical SPDI:: NC_000020.11:36607714:G:A
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.36607715G>A, NC_000020.10:g.35236118G>A, NM_018840.5:c.115G>A, NM_018840.4:c.115G>A, NR_026562.4:n.288G>A, NR_026562.3:n.333G>A, NM_199483.3:c.115G>A, NM_199483.2:c.115G>A, NM_001199535.2:c.193G>A, NM_001199535.1:c.193G>A, NM_001199534.2:c.115G>A, NM_001199534.1:c.115G>A, NR_164351.1:n.288G>A, NM_199484.1:c.115G>A, NM_001374178.1:c.115G>A, NM_199485.1:c.115G>A, NR_164350.1:n.288G>A, NP_061328.1:p.Asp39Asn, NP_955777.1:p.Asp39Asn, NP_001186464.1:p.Asp65Asn, NP_001186463.1:p.Asp39Asn, NP_001361107.1:p.Asp39Asn

Select item 141638649217.

rs1416386492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:36612174 (GRCh38)
20:35240577 (GRCh37)
Canonical SPDI:: NC_000020.11:36612173:G:A
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.36612174G>A, NC_000020.10:g.35240577G>A, NG_031823.2:g.39043C>T, NM_018840.5:c.*123G>A, NM_018840.4:c.*123G>A, NR_026562.4:n.797G>A, NR_026562.3:n.842G>A, NM_199483.3:c.383G>A, NM_199483.2:c.383G>A, NM_001199535.2:c.*123G>A, NM_001199535.1:c.*123G>A, NM_001199534.2:c.*127G>A, NM_001199534.1:c.*127G>A, NR_164351.1:n.818G>A, NM_199484.1:c.*360G>A, NM_001374178.1:c.*165G>A, NM_199485.1:c.*230G>A, NR_164350.1:n.667G>A, NP_955777.1:p.Arg128His

Select item 141422512518.

rs1414225125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:36612075 (GRCh38)
20:35240478 (GRCh37)
Canonical SPDI:: NC_000020.11:36612074:C:T
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.36612075C>T, NC_000020.10:g.35240478C>T, NG_031823.2:g.39142G>A, NM_018840.5:c.*24C>T, NM_018840.4:c.*24C>T, NR_026562.4:n.698C>T, NR_026562.3:n.743C>T, NM_199483.3:c.284C>T, NM_199483.2:c.284C>T, NM_001199535.2:c.*24C>T, NM_001199535.1:c.*24C>T, NM_001199534.2:c.*28C>T, NM_001199534.1:c.*28C>T, NR_164351.1:n.719C>T, NM_199484.1:c.*261C>T, NM_001374178.1:c.*66C>T, NM_199485.1:c.*131C>T, NR_164350.1:n.568C>T, NP_955777.1:p.Pro95Leu

Select item 141132275319.

rs1411322753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:36612140 (GRCh38)
20:35240543 (GRCh37)
Canonical SPDI:: NC_000020.11:36612139:C:T
Gene:: RAB5IF (Varview), SLA2 (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.36612140C>T, NC_000020.10:g.35240543C>T, NG_031823.2:g.39077G>A, NM_018840.5:c.*89C>T, NM_018840.4:c.*89C>T, NR_026562.4:n.763C>T, NR_026562.3:n.808C>T, NM_199483.3:c.349C>T, NM_199483.2:c.349C>T, NM_001199535.2:c.*89C>T, NM_001199535.1:c.*89C>T, NM_001199534.2:c.*93C>T, NM_001199534.1:c.*93C>T, NR_164351.1:n.784C>T, NM_199484.1:c.*326C>T, NM_001374178.1:c.*131C>T, NM_199485.1:c.*196C>T, NR_164350.1:n.633C>T, NP_955777.1:p.Pro117Ser

Select item 140114905620.

rs1401149056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:36606041 (GRCh38)
20:35234444 (GRCh37)
Canonical SPDI:: NC_000020.11:36606040:G:A,NC_000020.11:36606040:G:C
Gene:: RAB5IF (Varview), TGIF2-RAB5IF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000015/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.36606041G>A, NC_000020.11:g.36606041G>C, NC_000020.10:g.35234444G>A, NC_000020.10:g.35234444G>C, NM_018840.5:c.90G>A, NM_018840.5:c.90G>C, NM_018840.4:c.90G>A, NM_018840.4:c.90G>C, NR_026562.4:n.263G>A, NR_026562.4:n.263G>C, NR_026562.3:n.308G>A, NR_026562.3:n.308G>C, NM_199483.3:c.90G>A, NM_199483.3:c.90G>C, NM_199483.2:c.90G>A, NM_199483.2:c.90G>C, NM_001199534.2:c.90G>A, NM_001199534.2:c.90G>C, NM_001199534.1:c.90G>A, NM_001199534.1:c.90G>C, NR_164351.1:n.263G>A, NR_164351.1:n.263G>C, NM_199484.1:c.90G>A, NM_199484.1:c.90G>C, NM_001374178.1:c.90G>A, NM_001374178.1:c.90G>C, NM_199485.1:c.90G>A, NM_199485.1:c.90G>C, NR_164350.1:n.263G>A, NR_164350.1:n.263G>C

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