SNP Links for Protein (Select 190360571) - SNP

Links from Protein

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Select item 14901961281.

rs1490196128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:22735988 (GRCh38)
4:22737611 (GRCh37)
Canonical SPDI:: NC_000004.12:22735987:G:A
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22735988G>A, NC_000004.11:g.22737611G>A, NW_025791774.1:g.57781G>A, NM_020973.5:c.66G>A, NM_020973.4:c.66G>A, NM_001128432.3:c.66G>A, NM_001128432.2:c.66G>A, NR_102355.2:n.145G>A, NR_102355.1:n.168G>A, NR_102357.2:n.67G>A, NR_102357.1:n.70G>A, NR_102356.2:n.145G>A, NR_102356.1:n.168G>A, NM_001277225.2:c.69G>A, NM_001277225.1:c.69G>A

Select item 14851690112.

rs1485169011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:22818916 (GRCh38)
4:22820539 (GRCh37)
Canonical SPDI:: NC_000004.12:22818915:A:G,NC_000004.12:22818915:A:T
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000004.12:g.22818916A>G, NC_000004.12:g.22818916A>T, NC_000004.11:g.22820539A>G, NC_000004.11:g.22820539A>T, NW_025791774.1:g.140709A>G, NW_025791774.1:g.140709A>T, NM_020973.5:c.1403A>G, NM_020973.5:c.1403A>T, NM_020973.4:c.1403A>G, NM_020973.4:c.1403A>T, NM_001128432.3:c.482A>G, NM_001128432.3:c.482A>T, NM_001128432.2:c.482A>G, NM_001128432.2:c.482A>T, NR_102355.2:n.1482A>G, NR_102355.2:n.1482A>T, NR_102355.1:n.1505A>G, NR_102355.1:n.1505A>T, NR_102357.2:n.1404A>G, NR_102357.2:n.1404A>T, NR_102357.1:n.1407A>G, NR_102357.1:n.1407A>T, NR_102356.2:n.561A>G, NR_102356.2:n.561A>T, NR_102356.1:n.584A>G, NR_102356.1:n.584A>T, NM_001277225.2:c.1406A>G, NM_001277225.2:c.1406A>T, NM_001277225.1:c.1406A>G, NM_001277225.1:c.1406A>T

Select item 14732396473.

rs1473239647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:22818871 (GRCh38)
4:22820494 (GRCh37)
Canonical SPDI:: NC_000004.12:22818870:C:G,NC_000004.12:22818870:C:T
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.22818871C>G, NC_000004.12:g.22818871C>T, NC_000004.11:g.22820494C>G, NC_000004.11:g.22820494C>T, NW_025791774.1:g.140664C>G, NW_025791774.1:g.140664C>T, NM_020973.5:c.1358C>G, NM_020973.5:c.1358C>T, NM_020973.4:c.1358C>G, NM_020973.4:c.1358C>T, NM_001128432.3:c.437C>G, NM_001128432.3:c.437C>T, NM_001128432.2:c.437C>G, NM_001128432.2:c.437C>T, NR_102355.2:n.1437C>G, NR_102355.2:n.1437C>T, NR_102355.1:n.1460C>G, NR_102355.1:n.1460C>T, NR_102357.2:n.1359C>G, NR_102357.2:n.1359C>T, NR_102357.1:n.1362C>G, NR_102357.1:n.1362C>T, NR_102356.2:n.516C>G, NR_102356.2:n.516C>T, NR_102356.1:n.539C>G, NR_102356.1:n.539C>T, NM_001277225.2:c.1361C>G, NM_001277225.2:c.1361C>T, NM_001277225.1:c.1361C>G, NM_001277225.1:c.1361C>T

Select item 14712409544.

rs1471240954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:22736156 (GRCh38)
4:22737779 (GRCh37)
Canonical SPDI:: NC_000004.12:22736155:T:C
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22736156T>C, NC_000004.11:g.22737779T>C, NW_025791774.1:g.57949T>C, NM_020973.5:c.234T>C, NM_020973.4:c.234T>C, NM_001128432.3:c.234T>C, NM_001128432.2:c.234T>C, NR_102355.2:n.313T>C, NR_102355.1:n.336T>C, NR_102357.2:n.235T>C, NR_102357.1:n.238T>C, NR_102356.2:n.313T>C, NR_102356.1:n.336T>C, NM_001277225.2:c.237T>C, NM_001277225.1:c.237T>C

Select item 14619051865.

rs1461905186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:22693059 (GRCh38)
4:22694682 (GRCh37)
Canonical SPDI:: NC_000004.12:22693058:C:G
Gene:: GBA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22693059C>G, NC_000004.11:g.22694682C>G, NW_025791774.1:g.14852C>G, NM_020973.5:c.44C>G, NM_020973.4:c.44C>G, NM_001128432.3:c.44C>G, NM_001128432.2:c.44C>G, NR_102355.2:n.123C>G, NR_102355.1:n.146C>G, NR_102356.2:n.123C>G, NR_102356.1:n.146C>G

Select item 14551020706.

rs1455102070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:22736101 (GRCh38)
4:22737724 (GRCh37)
Canonical SPDI:: NC_000004.12:22736100:A:G
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.22736101A>G, NC_000004.11:g.22737724A>G, NW_025791774.1:g.57894A>G, NM_020973.5:c.179A>G, NM_020973.4:c.179A>G, NM_001128432.3:c.179A>G, NM_001128432.2:c.179A>G, NR_102355.2:n.258A>G, NR_102355.1:n.281A>G, NR_102357.2:n.180A>G, NR_102357.1:n.183A>G, NR_102356.2:n.258A>G, NR_102356.1:n.281A>G, NM_001277225.2:c.182A>G, NM_001277225.1:c.182A>G

Select item 14454741437.

rs1445474143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:22736005 (GRCh38)
4:22737628 (GRCh37)
Canonical SPDI:: NC_000004.12:22736004:G:A
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.22736005G>A, NC_000004.11:g.22737628G>A, NW_025791774.1:g.57798G>A, NM_020973.5:c.83G>A, NM_020973.4:c.83G>A, NM_001128432.3:c.83G>A, NM_001128432.2:c.83G>A, NR_102355.2:n.162G>A, NR_102355.1:n.185G>A, NR_102357.2:n.84G>A, NR_102357.1:n.87G>A, NR_102356.2:n.162G>A, NR_102356.1:n.185G>A, NM_001277225.2:c.86G>A, NM_001277225.1:c.86G>A

Select item 14418255898.

rs1441825589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:22736173 (GRCh38)
4:22737796 (GRCh37)
Canonical SPDI:: NC_000004.12:22736172:T:A
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22736173T>A, NC_000004.11:g.22737796T>A, NW_025791774.1:g.57966T>A, NM_020973.5:c.251T>A, NM_020973.4:c.251T>A, NM_001128432.3:c.251T>A, NM_001128432.2:c.251T>A, NR_102355.2:n.330T>A, NR_102355.1:n.353T>A, NR_102357.2:n.252T>A, NR_102357.1:n.255T>A, NR_102356.2:n.330T>A, NR_102356.1:n.353T>A, NM_001277225.2:c.254T>A, NM_001277225.1:c.254T>A

Select item 14364794939.

rs1436479493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:22818749 (GRCh38)
4:22820372 (GRCh37)
Canonical SPDI:: NC_000004.12:22818748:A:G
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000212/4 (TOMMO)
HGVS:: NC_000004.12:g.22818749A>G, NC_000004.11:g.22820372A>G, NW_025791774.1:g.140542A>G, NM_020973.5:c.1236A>G, NM_020973.4:c.1236A>G, NM_001128432.3:c.315A>G, NM_001128432.2:c.315A>G, NR_102355.2:n.1315A>G, NR_102355.1:n.1338A>G, NR_102357.2:n.1237A>G, NR_102357.1:n.1240A>G, NR_102356.2:n.394A>G, NR_102356.1:n.417A>G, NM_001277225.2:c.1239A>G, NM_001277225.1:c.1239A>G

Select item 143203004910.

rs1432030049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:22736025 (GRCh38)
4:22737648 (GRCh37)
Canonical SPDI:: NC_000004.12:22736024:T:C
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000004.12:g.22736025T>C, NC_000004.11:g.22737648T>C, NW_025791774.1:g.57818T>C, NM_020973.5:c.103T>C, NM_020973.4:c.103T>C, NM_001128432.3:c.103T>C, NM_001128432.2:c.103T>C, NR_102355.2:n.182T>C, NR_102355.1:n.205T>C, NR_102357.2:n.104T>C, NR_102357.1:n.107T>C, NR_102356.2:n.182T>C, NR_102356.1:n.205T>C, NM_001277225.2:c.106T>C, NM_001277225.1:c.106T>C

Select item 142475764011.

rs1424757640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:22736147 (GRCh38)
4:22737770 (GRCh37)
Canonical SPDI:: NC_000004.12:22736146:C:T
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000004.12:g.22736147C>T, NC_000004.11:g.22737770C>T, NW_025791774.1:g.57940C>T, NM_020973.5:c.225C>T, NM_020973.4:c.225C>T, NM_001128432.3:c.225C>T, NM_001128432.2:c.225C>T, NR_102355.2:n.304C>T, NR_102355.1:n.327C>T, NR_102357.2:n.226C>T, NR_102357.1:n.229C>T, NR_102356.2:n.304C>T, NR_102356.1:n.327C>T, NM_001277225.2:c.228C>T, NM_001277225.1:c.228C>T

Select item 142157740312.

rs1421577403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:22818827 (GRCh38)
4:22820450 (GRCh37)
Canonical SPDI:: NC_000004.12:22818826:T:C
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.22818827T>C, NC_000004.11:g.22820450T>C, NW_025791774.1:g.140620T>C, NM_020973.5:c.1314T>C, NM_020973.4:c.1314T>C, NM_001128432.3:c.393T>C, NM_001128432.2:c.393T>C, NR_102355.2:n.1393T>C, NR_102355.1:n.1416T>C, NR_102357.2:n.1315T>C, NR_102357.1:n.1318T>C, NR_102356.2:n.472T>C, NR_102356.1:n.495T>C, NM_001277225.2:c.1317T>C, NM_001277225.1:c.1317T>C

Select item 141845567113.

rs1418455671 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:22736006 (GRCh38)
4:22737629 (GRCh37)
Canonical SPDI:: NC_000004.12:22736005:CCC:CC
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22736008del, NC_000004.11:g.22737631del, NW_025791774.1:g.57801del, NM_020973.5:c.86del, NM_020973.4:c.86del, NM_001128432.3:c.86del, NM_001128432.2:c.86del, NR_102355.2:n.165del, NR_102355.1:n.188del, NR_102357.2:n.87del, NR_102357.1:n.90del, NR_102356.2:n.165del, NR_102356.1:n.188del, NM_001277225.2:c.89del, NM_001277225.1:c.89del

Select item 141389287614.

rs1413892876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:22818808 (GRCh38)
4:22820431 (GRCh37)
Canonical SPDI:: NC_000004.12:22818807:G:A
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22818808G>A, NC_000004.11:g.22820431G>A, NW_025791774.1:g.140601G>A, NM_020973.5:c.1295G>A, NM_020973.4:c.1295G>A, NM_001128432.3:c.374G>A, NM_001128432.2:c.374G>A, NR_102355.2:n.1374G>A, NR_102355.1:n.1397G>A, NR_102357.2:n.1296G>A, NR_102357.1:n.1299G>A, NR_102356.2:n.453G>A, NR_102356.1:n.476G>A, NM_001277225.2:c.1298G>A, NM_001277225.1:c.1298G>A

Select item 140920757415.

rs1409207574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:22736151 (GRCh38)
4:22737774 (GRCh37)
Canonical SPDI:: NC_000004.12:22736150:T:C
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22736151T>C, NC_000004.11:g.22737774T>C, NW_025791774.1:g.57944T>C, NM_020973.5:c.229T>C, NM_020973.4:c.229T>C, NM_001128432.3:c.229T>C, NM_001128432.2:c.229T>C, NR_102355.2:n.308T>C, NR_102355.1:n.331T>C, NR_102357.2:n.230T>C, NR_102357.1:n.233T>C, NR_102356.2:n.308T>C, NR_102356.1:n.331T>C, NM_001277225.2:c.232T>C, NM_001277225.1:c.232T>C

Select item 138896738616.

rs1388967386 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCA [Show Flanks]
Chromosome:: 4:22818735 (GRCh38)
4:22820359 (GRCh37)
Canonical SPDI:: NC_000004.12:22818735:A:ATCA
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATCA=0./0 (ALFA)
ATC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.22818736_22818737insTCA, NC_000004.11:g.22820359_22820360insTCA, NW_025791774.1:g.140529_140530insTCA, NM_020973.5:c.1223_1224insTCA, NM_020973.4:c.1223_1224insTCA, NM_001128432.3:c.302_303insTCA, NM_001128432.2:c.302_303insTCA, NR_102355.2:n.1302_1303insTCA, NR_102355.1:n.1325_1326insTCA, NR_102357.2:n.1224_1225insTCA, NR_102357.1:n.1227_1228insTCA, NR_102356.2:n.381_382insTCA, NR_102356.1:n.404_405insTCA, NM_001277225.2:c.1226_1227insTCA, NM_001277225.1:c.1226_1227insTCA

Select item 138772298917.

rs1387722989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:22693066 (GRCh38)
4:22694689 (GRCh37)
Canonical SPDI:: NC_000004.12:22693065:A:C,NC_000004.12:22693065:A:G
Gene:: GBA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.22693066A>C, NC_000004.12:g.22693066A>G, NC_000004.11:g.22694689A>C, NC_000004.11:g.22694689A>G, NW_025791774.1:g.14859A>C, NW_025791774.1:g.14859A>G, NM_020973.5:c.51A>C, NM_020973.5:c.51A>G, NM_020973.4:c.51A>C, NM_020973.4:c.51A>G, NM_001128432.3:c.51A>C, NM_001128432.3:c.51A>G, NM_001128432.2:c.51A>C, NM_001128432.2:c.51A>G, NR_102355.2:n.130A>C, NR_102355.2:n.130A>G, NR_102355.1:n.153A>C, NR_102355.1:n.153A>G, NR_102356.2:n.130A>C, NR_102356.2:n.130A>G, NR_102356.1:n.153A>C, NR_102356.1:n.153A>G

Select item 138327087718.

rs1383270877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:22818880 (GRCh38)
4:22820503 (GRCh37)
Canonical SPDI:: NC_000004.12:22818879:A:G
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.22818880A>G, NC_000004.11:g.22820503A>G, NW_025791774.1:g.140673A>G, NM_020973.5:c.1367A>G, NM_020973.4:c.1367A>G, NM_001128432.3:c.446A>G, NM_001128432.2:c.446A>G, NR_102355.2:n.1446A>G, NR_102355.1:n.1469A>G, NR_102357.2:n.1368A>G, NR_102357.1:n.1371A>G, NR_102356.2:n.525A>G, NR_102356.1:n.548A>G, NM_001277225.2:c.1370A>G, NM_001277225.1:c.1370A>G

Select item 137855388619.

rs1378553886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:22818842 (GRCh38)
4:22820465 (GRCh37)
Canonical SPDI:: NC_000004.12:22818841:A:G
Gene:: GBA3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.22818842A>G, NC_000004.11:g.22820465A>G, NW_025791774.1:g.140635A>G, NM_020973.5:c.1329A>G, NM_020973.4:c.1329A>G, NM_001128432.3:c.408A>G, NM_001128432.2:c.408A>G, NR_102355.2:n.1408A>G, NR_102355.1:n.1431A>G, NR_102357.2:n.1330A>G, NR_102357.1:n.1333A>G, NR_102356.2:n.487A>G, NR_102356.1:n.510A>G, NM_001277225.2:c.1332A>G, NM_001277225.1:c.1332A>G

Select item 137816157920.

rs1378161579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:22736129 (GRCh38)
4:22737752 (GRCh37)
Canonical SPDI:: NC_000004.12:22736128:T:A
Gene:: GBA3 (Varview), LOC105374521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.22736129T>A, NC_000004.11:g.22737752T>A, NW_025791774.1:g.57922T>A, NM_020973.5:c.207T>A, NM_020973.4:c.207T>A, NM_001128432.3:c.207T>A, NM_001128432.2:c.207T>A, NR_102355.2:n.286T>A, NR_102355.1:n.309T>A, NR_102357.2:n.208T>A, NR_102357.1:n.211T>A, NR_102356.2:n.286T>A, NR_102356.1:n.309T>A, NM_001277225.2:c.210T>A, NM_001277225.1:c.210T>A

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