SNP Links for Protein (Select 1034655630) - SNP

Select item 14854066381.

rs1485406638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:140411971 (GRCh38)
7:140111771 (GRCh37)
Canonical SPDI:: NC_000007.14:140411970:C:A,NC_000007.14:140411970:C:G,NC_000007.14:140411970:C:T
Gene:: RAB19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.140411971C>A, NC_000007.14:g.140411971C>G, NC_000007.14:g.140411971C>T, NC_000007.13:g.140111771C>A, NC_000007.13:g.140111771C>G, NC_000007.13:g.140111771C>T, XM_005249996.4:c.299C>A, XM_005249996.4:c.299C>G, XM_005249996.4:c.299C>T, XM_005249996.3:c.299C>A, XM_005249996.3:c.299C>G, XM_005249996.3:c.299C>T, XM_005249996.2:c.299C>A, XM_005249996.2:c.299C>G, XM_005249996.2:c.299C>T, XM_005249996.1:c.299C>A, XM_005249996.1:c.299C>G, XM_005249996.1:c.299C>T, XM_005249997.4:c.263C>A, XM_005249997.4:c.263C>G, XM_005249997.4:c.263C>T, XM_005249997.3:c.263C>A, XM_005249997.3:c.263C>G, XM_005249997.3:c.263C>T, XM_005249997.2:c.263C>A, XM_005249997.2:c.263C>G, XM_005249997.2:c.263C>T, XM_005249997.1:c.263C>A, XM_005249997.1:c.263C>G, XM_005249997.1:c.263C>T, XM_005249998.4:c.257C>A, XM_005249998.4:c.257C>G, XM_005249998.4:c.257C>T, XM_005249998.3:c.257C>A, XM_005249998.3:c.257C>G, XM_005249998.3:c.257C>T, XM_005249998.2:c.257C>A, XM_005249998.2:c.257C>G, XM_005249998.2:c.257C>T, XM_005249998.1:c.257C>A, XM_005249998.1:c.257C>G, XM_005249998.1:c.257C>T, NM_001008749.3:c.299C>A, NM_001008749.3:c.299C>G, NM_001008749.3:c.299C>T, NM_001008749.2:c.299C>A, NM_001008749.2:c.299C>G, NM_001008749.2:c.299C>T, XM_017012207.2:c.299C>A, XM_017012207.2:c.299C>G, XM_017012207.2:c.299C>T, XM_017012207.1:c.299C>A, XM_017012207.1:c.299C>G, XM_017012207.1:c.299C>T, XM_047420375.1:c.263C>A, XM_047420375.1:c.263C>G, XM_047420375.1:c.263C>T, XP_005250053.1:p.Thr100Asn, XP_005250053.1:p.Thr100Ser, XP_005250053.1:p.Thr100Ile, XP_005250054.1:p.Thr88Asn, XP_005250054.1:p.Thr88Ser, XP_005250054.1:p.Thr88Ile, XP_005250055.1:p.Thr86Asn, XP_005250055.1:p.Thr86Ser, XP_005250055.1:p.Thr86Ile, NP_001008749.2:p.Thr100Asn, NP_001008749.2:p.Thr100Ser, NP_001008749.2:p.Thr100Ile, XP_016867696.1:p.Thr100Asn, XP_016867696.1:p.Thr100Ser, XP_016867696.1:p.Thr100Ile, XP_047276331.1:p.Thr88Asn, XP_047276331.1:p.Thr88Ser, XP_047276331.1:p.Thr88Ile

Select item 14760221192.

rs1476022119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140426144 (GRCh38)
7:140125944 (GRCh37)
Canonical SPDI:: NC_000007.14:140426143:T:C
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.140426144T>C, NC_000007.13:g.140125944T>C, XM_005249996.4:c.648T>C, XM_005249996.3:c.648T>C, XM_005249996.2:c.648T>C, XM_005249996.1:c.648T>C, XM_005249997.4:c.612T>C, XM_005249997.3:c.612T>C, XM_005249997.2:c.612T>C, XM_005249997.1:c.612T>C, XM_005249998.4:c.606T>C, XM_005249998.3:c.606T>C, XM_005249998.2:c.606T>C, XM_005249998.1:c.606T>C, NM_001008749.3:c.648T>C, NM_001008749.2:c.648T>C, XM_017012207.2:c.648T>C, XM_017012207.1:c.648T>C, XM_047420375.1:c.612T>C

Select item 14733394493.

rs1473339449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140426116 (GRCh38)
7:140125916 (GRCh37)
Canonical SPDI:: NC_000007.14:140426115:A:G
Gene:: RAB19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.140426116A>G, NC_000007.13:g.140125916A>G, XM_005249996.4:c.620A>G, XM_005249996.3:c.620A>G, XM_005249996.2:c.620A>G, XM_005249996.1:c.620A>G, XM_005249997.4:c.584A>G, XM_005249997.3:c.584A>G, XM_005249997.2:c.584A>G, XM_005249997.1:c.584A>G, XM_005249998.4:c.578A>G, XM_005249998.3:c.578A>G, XM_005249998.2:c.578A>G, XM_005249998.1:c.578A>G, NM_001008749.3:c.620A>G, NM_001008749.2:c.620A>G, XM_017012207.2:c.620A>G, XM_017012207.1:c.620A>G, XM_047420375.1:c.584A>G, XP_005250053.1:p.Gln207Arg, XP_005250054.1:p.Gln195Arg, XP_005250055.1:p.Gln193Arg, NP_001008749.2:p.Gln207Arg, XP_016867696.1:p.Gln207Arg, XP_047276331.1:p.Gln195Arg

Select item 14722974254.

rs1472297425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140407748 (GRCh38)
7:140107548 (GRCh37)
Canonical SPDI:: NC_000007.14:140407747:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140407748G>A, NC_000007.13:g.140107548G>A, XM_005249996.4:c.102G>A, XM_005249996.3:c.102G>A, XM_005249996.2:c.102G>A, XM_005249996.1:c.102G>A, XM_005249997.4:c.102G>A, XM_005249997.3:c.102G>A, XM_005249997.2:c.102G>A, XM_005249997.1:c.102G>A, XM_005249998.4:c.102G>A, XM_005249998.3:c.102G>A, XM_005249998.2:c.102G>A, XM_005249998.1:c.102G>A, NM_001008749.3:c.102G>A, NM_001008749.2:c.102G>A, XM_017012207.2:c.102G>A, XM_017012207.1:c.102G>A, XM_047420375.1:c.102G>A

Select item 14584914295.

rs1458491429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140426059 (GRCh38)
7:140125859 (GRCh37)
Canonical SPDI:: NC_000007.14:140426058:A:G
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140426059A>G, NC_000007.13:g.140125859A>G, XM_005249996.4:c.563A>G, XM_005249996.3:c.563A>G, XM_005249996.2:c.563A>G, XM_005249996.1:c.563A>G, XM_005249997.4:c.527A>G, XM_005249997.3:c.527A>G, XM_005249997.2:c.527A>G, XM_005249997.1:c.527A>G, XM_005249998.4:c.521A>G, XM_005249998.3:c.521A>G, XM_005249998.2:c.521A>G, XM_005249998.1:c.521A>G, NM_001008749.3:c.563A>G, NM_001008749.2:c.563A>G, XM_017012207.2:c.563A>G, XM_017012207.1:c.563A>G, XM_047420375.1:c.527A>G, XP_005250053.1:p.Tyr188Cys, XP_005250054.1:p.Tyr176Cys, XP_005250055.1:p.Tyr174Cys, NP_001008749.2:p.Tyr188Cys, XP_016867696.1:p.Tyr188Cys, XP_047276331.1:p.Tyr176Cys

Select item 14578819086.

rs1457881908 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:140412009 (GRCh38)
7:140111809 (GRCh37)
Canonical SPDI:: NC_000007.14:140412008:C:
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000029/4 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000007.14:g.140412009del, NC_000007.13:g.140111809del, XM_005249996.4:c.337del, XM_005249996.3:c.337del, XM_005249996.2:c.337del, XM_005249996.1:c.337del, XM_005249997.4:c.301del, XM_005249997.3:c.301del, XM_005249997.2:c.301del, XM_005249997.1:c.301del, XM_005249998.4:c.295del, XM_005249998.3:c.295del, XM_005249998.2:c.295del, XM_005249998.1:c.295del, NM_001008749.3:c.337del, NM_001008749.2:c.337del, XM_017012207.2:c.337del, XM_017012207.1:c.337del, XM_047420375.1:c.301del, XP_005250053.1:p.His113fs, XP_005250054.1:p.His101fs, XP_005250055.1:p.His99fs, NP_001008749.2:p.His113fs, XP_016867696.1:p.His113fs, XP_047276331.1:p.His101fs

Select item 14518888427.

rs1451888842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140426054 (GRCh38)
7:140125854 (GRCh37)
Canonical SPDI:: NC_000007.14:140426053:C:T
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.140426054C>T, NC_000007.13:g.140125854C>T, XM_005249996.4:c.558C>T, XM_005249996.3:c.558C>T, XM_005249996.2:c.558C>T, XM_005249996.1:c.558C>T, XM_005249997.4:c.522C>T, XM_005249997.3:c.522C>T, XM_005249997.2:c.522C>T, XM_005249997.1:c.522C>T, XM_005249998.4:c.516C>T, XM_005249998.3:c.516C>T, XM_005249998.2:c.516C>T, XM_005249998.1:c.516C>T, NM_001008749.3:c.558C>T, NM_001008749.2:c.558C>T, XM_017012207.2:c.558C>T, XM_017012207.1:c.558C>T, XM_047420375.1:c.522C>T

Select item 14518885628.

rs1451888562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140407699 (GRCh38)
7:140107499 (GRCh37)
Canonical SPDI:: NC_000007.14:140407698:T:C
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140407699T>C, NC_000007.13:g.140107499T>C, XM_005249996.4:c.53T>C, XM_005249996.3:c.53T>C, XM_005249996.2:c.53T>C, XM_005249996.1:c.53T>C, XM_005249997.4:c.53T>C, XM_005249997.3:c.53T>C, XM_005249997.2:c.53T>C, XM_005249997.1:c.53T>C, XM_005249998.4:c.53T>C, XM_005249998.3:c.53T>C, XM_005249998.2:c.53T>C, XM_005249998.1:c.53T>C, NM_001008749.3:c.53T>C, NM_001008749.2:c.53T>C, XM_017012207.2:c.53T>C, XM_017012207.1:c.53T>C, XM_047420375.1:c.53T>C, XP_005250053.1:p.Phe18Ser, XP_005250054.1:p.Phe18Ser, XP_005250055.1:p.Phe18Ser, NP_001008749.2:p.Phe18Ser, XP_016867696.1:p.Phe18Ser, XP_047276331.1:p.Phe18Ser

Select item 14517183369.

rs1451718336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:140407842 (GRCh38)
7:140107642 (GRCh37)
Canonical SPDI:: NC_000007.14:140407841:G:A,NC_000007.14:140407841:G:T
Gene:: RAB19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000024/6 (GnomAD_exomes)
T=0.000082/11 (GnomAD)
HGVS:: NC_000007.14:g.140407842G>A, NC_000007.14:g.140407842G>T, NC_000007.13:g.140107642G>A, NC_000007.13:g.140107642G>T, XM_005249996.4:c.196G>A, XM_005249996.4:c.196G>T, XM_005249996.3:c.196G>A, XM_005249996.3:c.196G>T, XM_005249996.2:c.196G>A, XM_005249996.2:c.196G>T, XM_005249996.1:c.196G>A, XM_005249996.1:c.196G>T, NM_001008749.3:c.196G>A, NM_001008749.3:c.196G>T, NM_001008749.2:c.196G>A, NM_001008749.2:c.196G>T, XM_017012207.2:c.196G>A, XM_017012207.2:c.196G>T, XM_017012207.1:c.196G>A, XM_017012207.1:c.196G>T, XP_005250053.1:p.Val66Met, XP_005250053.1:p.Val66Leu, NP_001008749.2:p.Val66Met, NP_001008749.2:p.Val66Leu, XP_016867696.1:p.Val66Met, XP_016867696.1:p.Val66Leu

Select item 144980480210.

rs1449804802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:140411901 (GRCh38)
7:140111701 (GRCh37)
Canonical SPDI:: NC_000007.14:140411900:G:T
Gene:: RAB19 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140411901G>T, NC_000007.13:g.140111701G>T, XM_005249996.4:c.229G>T, XM_005249996.3:c.229G>T, XM_005249996.2:c.229G>T, XM_005249996.1:c.229G>T, XM_005249997.4:c.193G>T, XM_005249997.3:c.193G>T, XM_005249997.2:c.193G>T, XM_005249997.1:c.193G>T, XM_005249998.4:c.187G>T, XM_005249998.3:c.187G>T, XM_005249998.2:c.187G>T, XM_005249998.1:c.187G>T, NM_001008749.3:c.229G>T, NM_001008749.2:c.229G>T, XM_017012207.2:c.229G>T, XM_017012207.1:c.229G>T, XM_047420375.1:c.193G>T, XP_005250053.1:p.Glu77Ter, XP_005250054.1:p.Glu65Ter, XP_005250055.1:p.Glu63Ter, NP_001008749.2:p.Glu77Ter, XP_016867696.1:p.Glu77Ter, XP_047276331.1:p.Glu65Ter

Select item 144747261111.

rs1447472611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140411935 (GRCh38)
7:140111735 (GRCh37)
Canonical SPDI:: NC_000007.14:140411934:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.140411935G>A, NC_000007.13:g.140111735G>A, XM_005249996.4:c.263G>A, XM_005249996.3:c.263G>A, XM_005249996.2:c.263G>A, XM_005249996.1:c.263G>A, XM_005249997.4:c.227G>A, XM_005249997.3:c.227G>A, XM_005249997.2:c.227G>A, XM_005249997.1:c.227G>A, XM_005249998.4:c.221G>A, XM_005249998.3:c.221G>A, XM_005249998.2:c.221G>A, XM_005249998.1:c.221G>A, NM_001008749.3:c.263G>A, NM_001008749.2:c.263G>A, XM_017012207.2:c.263G>A, XM_017012207.1:c.263G>A, XM_047420375.1:c.227G>A, XP_005250053.1:p.Arg88His, XP_005250054.1:p.Arg76His, XP_005250055.1:p.Arg74His, NP_001008749.2:p.Arg88His, XP_016867696.1:p.Arg88His, XP_047276331.1:p.Arg76His

Select item 144258493112.

rs1442584931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140426049 (GRCh38)
7:140125849 (GRCh37)
Canonical SPDI:: NC_000007.14:140426048:C:T
Gene:: RAB19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.140426049C>T, NC_000007.13:g.140125849C>T, XM_005249996.4:c.553C>T, XM_005249996.3:c.553C>T, XM_005249996.2:c.553C>T, XM_005249996.1:c.553C>T, XM_005249997.4:c.517C>T, XM_005249997.3:c.517C>T, XM_005249997.2:c.517C>T, XM_005249997.1:c.517C>T, XM_005249998.4:c.511C>T, XM_005249998.3:c.511C>T, XM_005249998.2:c.511C>T, XM_005249998.1:c.511C>T, NM_001008749.3:c.553C>T, NM_001008749.2:c.553C>T, XM_017012207.2:c.553C>T, XM_017012207.1:c.553C>T, XM_047420375.1:c.517C>T

Select item 144142159013.

rs1441421590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:140411927 (GRCh38)
7:140111727 (GRCh37)
Canonical SPDI:: NC_000007.14:140411926:C:G
Gene:: RAB19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140411927C>G, NC_000007.13:g.140111727C>G, XM_005249996.4:c.255C>G, XM_005249996.3:c.255C>G, XM_005249996.2:c.255C>G, XM_005249996.1:c.255C>G, XM_005249997.4:c.219C>G, XM_005249997.3:c.219C>G, XM_005249997.2:c.219C>G, XM_005249997.1:c.219C>G, XM_005249998.4:c.213C>G, XM_005249998.3:c.213C>G, XM_005249998.2:c.213C>G, XM_005249998.1:c.213C>G, NM_001008749.3:c.255C>G, NM_001008749.2:c.255C>G, XM_017012207.2:c.255C>G, XM_017012207.1:c.255C>G, XM_047420375.1:c.219C>G, XP_005250053.1:p.Ser85Arg, XP_005250054.1:p.Ser73Arg, XP_005250055.1:p.Ser71Arg, NP_001008749.2:p.Ser85Arg, XP_016867696.1:p.Ser85Arg, XP_047276331.1:p.Ser73Arg

Select item 143708264414.

rs1437082644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140426001 (GRCh38)
7:140125801 (GRCh37)
Canonical SPDI:: NC_000007.14:140426000:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140426001G>A, NC_000007.13:g.140125801G>A, XM_005249996.4:c.505G>A, XM_005249996.3:c.505G>A, XM_005249996.2:c.505G>A, XM_005249996.1:c.505G>A, XM_005249997.4:c.469G>A, XM_005249997.3:c.469G>A, XM_005249997.2:c.469G>A, XM_005249997.1:c.469G>A, XM_005249998.4:c.463G>A, XM_005249998.3:c.463G>A, XM_005249998.2:c.463G>A, XM_005249998.1:c.463G>A, NM_001008749.3:c.505G>A, NM_001008749.2:c.505G>A, XM_017012207.2:c.505G>A, XM_017012207.1:c.505G>A, XM_047420375.1:c.469G>A, XP_005250053.1:p.Glu169Lys, XP_005250054.1:p.Glu157Lys, XP_005250055.1:p.Glu155Lys, NP_001008749.2:p.Glu169Lys, XP_016867696.1:p.Glu169Lys, XP_047276331.1:p.Glu157Lys

Select item 143490493315.

rs1434904933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:140411966 (GRCh38)
7:140111766 (GRCh37)
Canonical SPDI:: NC_000007.14:140411965:C:A
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.140411966C>A, NC_000007.13:g.140111766C>A, XM_005249996.4:c.294C>A, XM_005249996.3:c.294C>A, XM_005249996.2:c.294C>A, XM_005249996.1:c.294C>A, XM_005249997.4:c.258C>A, XM_005249997.3:c.258C>A, XM_005249997.2:c.258C>A, XM_005249997.1:c.258C>A, XM_005249998.4:c.252C>A, XM_005249998.3:c.252C>A, XM_005249998.2:c.252C>A, XM_005249998.1:c.252C>A, NM_001008749.3:c.294C>A, NM_001008749.2:c.294C>A, XM_017012207.2:c.294C>A, XM_017012207.1:c.294C>A, XM_047420375.1:c.258C>A, XP_005250053.1:p.Asp98Glu, XP_005250054.1:p.Asp86Glu, XP_005250055.1:p.Asp84Glu, NP_001008749.2:p.Asp98Glu, XP_016867696.1:p.Asp98Glu, XP_047276331.1:p.Asp86Glu

Select item 143475432716.

rs1434754327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:140407691 (GRCh38)
7:140107491 (GRCh37)
Canonical SPDI:: NC_000007.14:140407690:C:A,NC_000007.14:140407690:C:T
Gene:: RAB19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140407691C>A, NC_000007.14:g.140407691C>T, NC_000007.13:g.140107491C>A, NC_000007.13:g.140107491C>T, XM_005249996.4:c.45C>A, XM_005249996.4:c.45C>T, XM_005249996.3:c.45C>A, XM_005249996.3:c.45C>T, XM_005249996.2:c.45C>A, XM_005249996.2:c.45C>T, XM_005249996.1:c.45C>A, XM_005249996.1:c.45C>T, XM_005249997.4:c.45C>A, XM_005249997.4:c.45C>T, XM_005249997.3:c.45C>A, XM_005249997.3:c.45C>T, XM_005249997.2:c.45C>A, XM_005249997.2:c.45C>T, XM_005249997.1:c.45C>A, XM_005249997.1:c.45C>T, XM_005249998.4:c.45C>A, XM_005249998.4:c.45C>T, XM_005249998.3:c.45C>A, XM_005249998.3:c.45C>T, XM_005249998.2:c.45C>A, XM_005249998.2:c.45C>T, XM_005249998.1:c.45C>A, XM_005249998.1:c.45C>T, NM_001008749.3:c.45C>A, NM_001008749.3:c.45C>T, NM_001008749.2:c.45C>A, NM_001008749.2:c.45C>T, XM_017012207.2:c.45C>A, XM_017012207.2:c.45C>T, XM_017012207.1:c.45C>A, XM_017012207.1:c.45C>T, XM_047420375.1:c.45C>A, XM_047420375.1:c.45C>T, XP_005250053.1:p.Asp15Glu, XP_005250054.1:p.Asp15Glu, XP_005250055.1:p.Asp15Glu, NP_001008749.2:p.Asp15Glu, XP_016867696.1:p.Asp15Glu, XP_047276331.1:p.Asp15Glu

Select item 143461758317.

rs1434617583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140412020 (GRCh38)
7:140111820 (GRCh37)
Canonical SPDI:: NC_000007.14:140412019:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.140412020G>A, NC_000007.13:g.140111820G>A, XM_005249996.4:c.348G>A, XM_005249996.3:c.348G>A, XM_005249996.2:c.348G>A, XM_005249996.1:c.348G>A, XM_005249997.4:c.312G>A, XM_005249997.3:c.312G>A, XM_005249997.2:c.312G>A, XM_005249997.1:c.312G>A, XM_005249998.4:c.306G>A, XM_005249998.3:c.306G>A, XM_005249998.2:c.306G>A, XM_005249998.1:c.306G>A, NM_001008749.3:c.348G>A, NM_001008749.2:c.348G>A, XM_017012207.2:c.348G>A, XM_017012207.1:c.348G>A, XM_047420375.1:c.312G>A

Select item 143214033218.

rs1432140332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:140407721 (GRCh38)
7:140107521 (GRCh37)
Canonical SPDI:: NC_000007.14:140407720:T:G
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.140407721T>G, NC_000007.13:g.140107521T>G, XM_005249996.4:c.75T>G, XM_005249996.3:c.75T>G, XM_005249996.2:c.75T>G, XM_005249996.1:c.75T>G, XM_005249997.4:c.75T>G, XM_005249997.3:c.75T>G, XM_005249997.2:c.75T>G, XM_005249997.1:c.75T>G, XM_005249998.4:c.75T>G, XM_005249998.3:c.75T>G, XM_005249998.2:c.75T>G, XM_005249998.1:c.75T>G, NM_001008749.3:c.75T>G, NM_001008749.2:c.75T>G, XM_017012207.2:c.75T>G, XM_017012207.1:c.75T>G, XM_047420375.1:c.75T>G, XP_005250053.1:p.Asp25Glu, XP_005250054.1:p.Asp25Glu, XP_005250055.1:p.Asp25Glu, NP_001008749.2:p.Asp25Glu, XP_016867696.1:p.Asp25Glu, XP_047276331.1:p.Asp25Glu

Select item 142837770019.

rs1428377700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:140412042 (GRCh38)
7:140111842 (GRCh37)
Canonical SPDI:: NC_000007.14:140412041:G:T
Gene:: RAB19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.140412042G>T, NC_000007.13:g.140111842G>T, XM_005249996.4:c.370G>T, XM_005249996.3:c.370G>T, XM_005249996.2:c.370G>T, XM_005249996.1:c.370G>T, XM_005249997.4:c.334G>T, XM_005249997.3:c.334G>T, XM_005249997.2:c.334G>T, XM_005249997.1:c.334G>T, XM_005249998.4:c.328G>T, XM_005249998.3:c.328G>T, XM_005249998.2:c.328G>T, XM_005249998.1:c.328G>T, NM_001008749.3:c.370G>T, NM_001008749.2:c.370G>T, XM_017012207.2:c.370G>T, XM_017012207.1:c.370G>T, XM_047420375.1:c.334G>T, XP_005250053.1:p.Val124Phe, XP_005250054.1:p.Val112Phe, XP_005250055.1:p.Val110Phe, NP_001008749.2:p.Val124Phe, XP_016867696.1:p.Val124Phe, XP_047276331.1:p.Val112Phe

Select item 142768629520.

rs1427686295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140411882 (GRCh38)
7:140111682 (GRCh37)
Canonical SPDI:: NC_000007.14:140411881:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.140411882G>A, NC_000007.13:g.140111682G>A, XM_005249996.4:c.210G>A, XM_005249996.3:c.210G>A, XM_005249996.2:c.210G>A, XM_005249996.1:c.210G>A, XM_005249997.4:c.174G>A, XM_005249997.3:c.174G>A, XM_005249997.2:c.174G>A, XM_005249997.1:c.174G>A, XM_005249998.4:c.168G>A, XM_005249998.3:c.168G>A, XM_005249998.2:c.168G>A, XM_005249998.1:c.168G>A, NM_001008749.3:c.210G>A, NM_001008749.2:c.210G>A, XM_017012207.2:c.210G>A, XM_017012207.1:c.210G>A, XM_047420375.1:c.174G>A

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Result Filters

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 262

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