SNP Links for Protein (Select 767984410) - SNP

Links from Protein

Items: 1 to 20 of 83

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Select item 14905222731.

rs1490522273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:63250442 (GRCh38)
15:63542641 (GRCh37)
Canonical SPDI:: NC_000015.10:63250441:T:G
Gene:: RAB8B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63250442T>G, NC_000015.9:g.63542641T>G, XM_011521669.4:c.321T>G, XM_011521669.3:c.321T>G, XM_011521669.2:c.321T>G, XM_011521669.1:c.321T>G

Select item 14870276442.

rs1487027644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:63189637 (GRCh38)
15:63481836 (GRCh37)
Canonical SPDI:: NC_000015.10:63189636:T:G
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.63189637T>G, NC_000015.9:g.63481836T>G, XM_011521669.4:c.13T>G, XM_011521669.3:c.13T>G, XM_011521669.2:c.13T>G, XM_011521669.1:c.13T>G, NM_016530.3:c.13T>G, NM_016530.2:c.13T>G, XM_017022312.1:c.-363T>G, XP_011519971.1:p.Tyr5Asp, NP_057614.1:p.Tyr5Asp

Select item 14685069243.

rs1468506924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:63250439 (GRCh38)
15:63542638 (GRCh37)
Canonical SPDI:: NC_000015.10:63250438:C:A
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63250439C>A, NC_000015.9:g.63542638C>A, XM_011521669.4:c.318C>A, XM_011521669.3:c.318C>A, XM_011521669.2:c.318C>A, XM_011521669.1:c.318C>A

Select item 14671294274.

rs1467129427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:63189738 (GRCh38)
15:63481937 (GRCh37)
Canonical SPDI:: NC_000015.10:63189737:C:G,NC_000015.10:63189737:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000531/9 (TOMMO)
T=0.000551/1 (Korea1K)
HGVS:: NC_000015.10:g.63189738C>G, NC_000015.10:g.63189738C>T, NC_000015.9:g.63481937C>G, NC_000015.9:g.63481937C>T, XM_011521669.4:c.114C>G, XM_011521669.4:c.114C>T, XM_011521669.3:c.114C>G, XM_011521669.3:c.114C>T, XM_011521669.2:c.114C>G, XM_011521669.2:c.114C>T, XM_011521669.1:c.114C>G, XM_011521669.1:c.114C>T, NM_016530.3:c.114C>G, NM_016530.3:c.114C>T, NM_016530.2:c.114C>G, NM_016530.2:c.114C>T, XM_017022312.1:c.-262C>G, XM_017022312.1:c.-262C>T, XP_011519971.1:p.Ile38Met, NP_057614.1:p.Ile38Met

Select item 14595383505.

rs1459538350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:63189659 (GRCh38)
15:63481858 (GRCh37)
Canonical SPDI:: NC_000015.10:63189658:T:C
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.63189659T>C, NC_000015.9:g.63481858T>C, XM_011521669.4:c.35T>C, XM_011521669.3:c.35T>C, XM_011521669.2:c.35T>C, XM_011521669.1:c.35T>C, NM_016530.3:c.35T>C, NM_016530.2:c.35T>C, XM_017022312.1:c.-341T>C, XP_011519971.1:p.Leu12Pro, NP_057614.1:p.Leu12Pro

Select item 14559822006.

rs1455982200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63189708 (GRCh38)
15:63481907 (GRCh37)
Canonical SPDI:: NC_000015.10:63189707:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63189708C>T, NC_000015.9:g.63481907C>T, XM_011521669.4:c.84C>T, XM_011521669.3:c.84C>T, XM_011521669.2:c.84C>T, XM_011521669.1:c.84C>T, NM_016530.3:c.84C>T, NM_016530.2:c.84C>T, XM_017022312.1:c.-292C>T

Select item 14551159967.

rs1455115996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63189703 (GRCh38)
15:63481902 (GRCh37)
Canonical SPDI:: NC_000015.10:63189702:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.63189703C>T, NC_000015.9:g.63481902C>T, XM_011521669.4:c.79C>T, XM_011521669.3:c.79C>T, XM_011521669.2:c.79C>T, XM_011521669.1:c.79C>T, NM_016530.3:c.79C>T, NM_016530.2:c.79C>T, XM_017022312.1:c.-297C>T, XP_011519971.1:p.Arg27Cys, NP_057614.1:p.Arg27Cys

Select item 14449697158.

rs1444969715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:63250378 (GRCh38)
15:63542577 (GRCh37)
Canonical SPDI:: NC_000015.10:63250377:A:G
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63250378A>G, NC_000015.9:g.63542577A>G, XM_011521669.4:c.257A>G, XM_011521669.3:c.257A>G, XM_011521669.2:c.257A>G, XM_011521669.1:c.257A>G, XP_011519971.1:p.His86Arg

Select item 14056523969.

rs1405652396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:63244773 (GRCh38)
15:63536972 (GRCh37)
Canonical SPDI:: NC_000015.10:63244772:A:C
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63244773A>C, NC_000015.9:g.63536972A>C, XM_011521669.4:c.142A>C, XM_011521669.3:c.142A>C, XM_011521669.2:c.142A>C, XM_011521669.1:c.142A>C, NM_016530.3:c.142A>C, NM_016530.2:c.142A>C, XM_017022312.1:c.-102A>C

Select item 140498201410.

rs1404982014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63250389 (GRCh38)
15:63542588 (GRCh37)
Canonical SPDI:: NC_000015.10:63250388:C:T
Gene:: RAB8B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63250389C>T, NC_000015.9:g.63542588C>T, XM_011521669.4:c.268C>T, XM_011521669.3:c.268C>T, XM_011521669.2:c.268C>T, XM_011521669.1:c.268C>T, XP_011519971.1:p.Pro90Ser

Select item 138847503311.

rs1388475033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:63189711 (GRCh38)
15:63481910 (GRCh37)
Canonical SPDI:: NC_000015.10:63189710:A:C,NC_000015.10:63189710:A:G
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63189711A>C, NC_000015.10:g.63189711A>G, NC_000015.9:g.63481910A>C, NC_000015.9:g.63481910A>G, XM_011521669.4:c.87A>C, XM_011521669.4:c.87A>G, XM_011521669.3:c.87A>C, XM_011521669.3:c.87A>G, XM_011521669.2:c.87A>C, XM_011521669.2:c.87A>G, XM_011521669.1:c.87A>C, XM_011521669.1:c.87A>G, NM_016530.3:c.87A>C, NM_016530.3:c.87A>G, NM_016530.2:c.87A>C, NM_016530.2:c.87A>G, XM_017022312.1:c.-289A>C, XM_017022312.1:c.-289A>G

Select item 137696887812.

rs1376968878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:63250419 (GRCh38)
15:63542618 (GRCh37)
Canonical SPDI:: NC_000015.10:63250418:G:A
Gene:: RAB8B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63250419G>A, NC_000015.9:g.63542618G>A, XM_011521669.4:c.298G>A, XM_011521669.3:c.298G>A, XM_011521669.2:c.298G>A, XM_011521669.1:c.298G>A, XP_011519971.1:p.Gly100Ser

Select item 137547043813.

rs1375470438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63189741 (GRCh38)
15:63481940 (GRCh37)
Canonical SPDI:: NC_000015.10:63189740:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.63189741C>T, NC_000015.9:g.63481940C>T, XM_011521669.4:c.117C>T, XM_011521669.3:c.117C>T, XM_011521669.2:c.117C>T, XM_011521669.1:c.117C>T, NM_016530.3:c.117C>T, NM_016530.2:c.117C>T, XM_017022312.1:c.-259C>T

Select item 136384617014.

rs1363846170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63250370 (GRCh38)
15:63542569 (GRCh37)
Canonical SPDI:: NC_000015.10:63250369:C:T
Gene:: RAB8B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.63250370C>T, NC_000015.9:g.63542569C>T, XM_011521669.4:c.249C>T, XM_011521669.3:c.249C>T, XM_011521669.2:c.249C>T, XM_011521669.1:c.249C>T

Select item 134386117115.

rs1343861171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:63244778 (GRCh38)
15:63536977 (GRCh37)
Canonical SPDI:: NC_000015.10:63244777:G:A
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.63244778G>A, NC_000015.9:g.63536977G>A, XM_011521669.4:c.147G>A, XM_011521669.3:c.147G>A, XM_011521669.2:c.147G>A, XM_011521669.1:c.147G>A, NM_016530.3:c.147G>A, NM_016530.2:c.147G>A, XM_017022312.1:c.-97G>A

Select item 133354451016.

rs1333544510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:63250381 (GRCh38)
15:63542580 (GRCh37)
Canonical SPDI:: NC_000015.10:63250380:A:G
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63250381A>G, NC_000015.9:g.63542580A>G, XM_011521669.4:c.260A>G, XM_011521669.3:c.260A>G, XM_011521669.2:c.260A>G, XM_011521669.1:c.260A>G, XP_011519971.1:p.Tyr87Cys

Select item 132474091617.

rs1324740916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63189717 (GRCh38)
15:63481916 (GRCh37)
Canonical SPDI:: NC_000015.10:63189716:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_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_000015.10:g.63189717C>T, NC_000015.9:g.63481916C>T, XM_011521669.4:c.93C>T, XM_011521669.3:c.93C>T, XM_011521669.2:c.93C>T, XM_011521669.1:c.93C>T, NM_016530.3:c.93C>T, NM_016530.2:c.93C>T, XM_017022312.1:c.-283C>T

Select item 132292707118.

rs1322927071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63189705 (GRCh38)
15:63481904 (GRCh37)
Canonical SPDI:: NC_000015.10:63189704:C:T
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63189705C>T, NC_000015.9:g.63481904C>T, XM_011521669.4:c.81C>T, XM_011521669.3:c.81C>T, XM_011521669.2:c.81C>T, XM_011521669.1:c.81C>T, NM_016530.3:c.81C>T, NM_016530.2:c.81C>T, XM_017022312.1:c.-295C>T

Select item 130428994519.

rs1304289945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:63244781 (GRCh38)
15:63536980 (GRCh37)
Canonical SPDI:: NC_000015.10:63244780:A:G
Gene:: RAB8B (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.63244781A>G, NC_000015.9:g.63536980A>G, XM_011521669.4:c.150A>G, XM_011521669.3:c.150A>G, XM_011521669.2:c.150A>G, XM_011521669.1:c.150A>G, NM_016530.3:c.150A>G, NM_016530.2:c.150A>G, XM_017022312.1:c.-94A>G, XP_011519971.1:p.Ile50Met, NP_057614.1:p.Ile50Met

Select item 128686897520.

rs1286868975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:63189719 (GRCh38)
15:63481918 (GRCh37)
Canonical SPDI:: NC_000015.10:63189718:C:G
Gene:: RAB8B (Varview), LOC101928972 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.63189719C>G, NC_000015.9:g.63481918C>G, XM_011521669.4:c.95C>G, XM_011521669.3:c.95C>G, XM_011521669.2:c.95C>G, XM_011521669.1:c.95C>G, NM_016530.3:c.95C>G, NM_016530.2:c.95C>G, XM_017022312.1:c.-281C>G, XP_011519971.1:p.Ala32Gly, NP_057614.1:p.Ala32Gly

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