SNP Links for Gene (Select 151306) - SNP

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Items: 1 to 20 of 1821

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Select item 14913769841.

rs1491376984 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:218257950 (GRCh38)
2:219122673 (GRCh37)
Canonical SPDI:: NC_000002.12:218257949:GG:
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218257950_218257951del, NC_000002.11:g.219122673_219122674del

Select item 14913338672.

rs1491333867 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:218263508 (GRCh38)
2:219128231 (GRCh37)
Canonical SPDI:: NC_000002.12:218263507:CT:
Gene:: GPBAR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000087/2 (ALFA)
-=0.000041/4 (ExAC)
-=0.000062/15 (GnomAD_exomes)
-=0.000068/18 (TOPMED)
-=0.000078/11 (GnomAD)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000002.12:g.218263508_218263509del, NC_000002.11:g.219128231_219128232del, NG_033036.1:g.11662_11663del, NM_170699.3:c.784_785del, NM_170699.2:c.784_785del, NM_001077191.2:c.784_785del, NM_001077191.1:c.784_785del, NM_001321950.2:c.784_785del, NM_001321950.1:c.784_785del, NM_001077194.2:c.784_785del, NM_001077194.1:c.784_785del, XM_011510743.1:c.784_785del, NP_733800.1:p.Leu262fs, NP_001070659.1:p.Leu262fs, NP_001308879.1:p.Leu262fs, NP_001070662.1:p.Leu262fs, XP_011509045.1:p.Leu262fs

Select item 14911007433.

rs1491100743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTTGGTTGGTTGGTT [Show Flanks]
Chromosome:: 2:218257950 (GRCh38)
2:219122674 (GRCh37)
Canonical SPDI:: NC_000002.12:218257950:GTTGGTTGGTTGGTT:GTTGGTTGGTTGGTTTGTTGGTTGGTTGGTT
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GTTGGTTGGTTGGTTTGTTGGTTGGTTGGTT=0./0 (ALFA)
GTTGGTTGGTTGGTTT=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218257951_218257965GTTG[3]GTTTGTTGGTTGGTTGGTT[1], NC_000002.11:g.219122674_219122688GTTG[3]GTTTGTTGGTTGGTTGGTT[1]

Select item 14900572084.

rs1490057208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218259130 (GRCh38)
2:219123853 (GRCh37)
Canonical SPDI:: NC_000002.12:218259129:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.218259130G>A, NC_000002.11:g.219123853G>A

Select item 14898951705.

rs1489895170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218259582 (GRCh38)
2:219124305 (GRCh37)
Canonical SPDI:: NC_000002.12:218259581:C:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218259582C>G, NC_000002.11:g.219124305C>G, NM_001321950.2:c.-648C>G, NM_001321950.1:c.-648C>G, XM_011510743.1:c.-1269C>G

Select item 14895145206.

rs1489514520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218262906 (GRCh38)
2:219127629 (GRCh37)
Canonical SPDI:: NC_000002.12:218262905:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218262906G>A, NC_000002.11:g.219127629G>A, NG_033036.1:g.12265C>T, NM_170699.3:c.182G>A, NM_170699.2:c.182G>A, NM_001077191.2:c.182G>A, NM_001077191.1:c.182G>A, NM_001321950.2:c.182G>A, NM_001321950.1:c.182G>A, NM_001077194.2:c.182G>A, NM_001077194.1:c.182G>A, XM_011510743.1:c.182G>A, NP_733800.1:p.Gly61Glu, NP_001070659.1:p.Gly61Glu, NP_001308879.1:p.Gly61Glu, NP_001070662.1:p.Gly61Glu, XP_011509045.1:p.Gly61Glu

Select item 14894069307.

rs1489406930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:218261327 (GRCh38)
2:219126050 (GRCh37)
Canonical SPDI:: NC_000002.12:218261326:G:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218261327G>C, NC_000002.11:g.219126050G>C

Select item 14890196958.

rs1489019695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218260986 (GRCh38)
2:219125709 (GRCh37)
Canonical SPDI:: NC_000002.12:218260985:T:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.218260986T>G, NC_000002.11:g.219125709T>G

Select item 14889672849.

rs1488967284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218262011 (GRCh38)
2:219126734 (GRCh37)
Canonical SPDI:: NC_000002.12:218262010:A:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.218262011A>G, NC_000002.11:g.219126734A>G

Select item 148866207710.

rs1488662077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218258279 (GRCh38)
2:219123002 (GRCh37)
Canonical SPDI:: NC_000002.12:218258278:T:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.218258279T>C, NC_000002.11:g.219123002T>C

Select item 148845779911.

rs1488457799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218260105 (GRCh38)
2:219124828 (GRCh37)
Canonical SPDI:: NC_000002.12:218260104:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.218260105G>A, NC_000002.11:g.219124828G>A, NM_001321950.2:c.-125G>A, NM_001321950.1:c.-125G>A, XM_011510743.1:c.-746G>A

Select item 148840533612.

rs1488405336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218261146 (GRCh38)
2:219125869 (GRCh37)
Canonical SPDI:: NC_000002.12:218261145:C:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: intron_variant,5_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_000002.12:g.218261146C>A, NC_000002.11:g.219125869C>A, NM_170699.3:c.-116C>A, NM_170699.2:c.-116C>A, NM_001077191.2:c.-737C>A, NM_001077191.1:c.-737C>A, NM_001077194.2:c.-229C>A, NM_001077194.1:c.-229C>A

Select item 148823209813.

rs1488232098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218263854 (GRCh38)
2:219128577 (GRCh37)
Canonical SPDI:: NC_000002.12:218263853:G:A
Gene:: AAMP (Varview), GPBAR1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218263854G>A, NC_000002.11:g.219128577G>A, NG_033036.1:g.11317C>T, NM_170699.3:c.*137G>A, NM_170699.2:c.*137G>A, NM_001077191.2:c.*137G>A, NM_001077191.1:c.*137G>A, NM_001321950.2:c.*137G>A, NM_001321950.1:c.*137G>A, NM_001077194.2:c.*137G>A, NM_001077194.1:c.*137G>A, XM_011510743.1:c.*137G>A

Select item 148801461114.

rs1488014611 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:218257654 (GRCh38)
2:219122378 (GRCh37)
Canonical SPDI:: NC_000002.12:218257654:CT:CTCT
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
CT=0.000008/2 (TOPMED)
CT=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218257655_218257656dup, NC_000002.11:g.219122378_219122379dup

Select item 148773362315.

rs1487733623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218257870 (GRCh38)
2:219122593 (GRCh37)
Canonical SPDI:: NC_000002.12:218257869:C:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218257870C>G, NC_000002.11:g.219122593C>G

Select item 148628054916.

rs1486280549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218260333 (GRCh38)
2:219125056 (GRCh37)
Canonical SPDI:: NC_000002.12:218260332:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218260333G>A, NC_000002.11:g.219125056G>A

Select item 148627027917.

rs1486270279 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:218261456 (GRCh38)
2:219126179 (GRCh37)
Canonical SPDI:: NC_000002.12:218261455:G:
Gene:: GPBAR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218261456del, NC_000002.11:g.219126179del

Select item 148591078718.

rs1485910787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:218263946 (GRCh38)
2:219128670 (GRCh37)
Canonical SPDI:: NC_000002.12:218263946:T:TT
Gene:: AAMP (Varview), GPBAR1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218263947dup, NC_000002.11:g.219128670dup, NG_033036.1:g.11224dup

Select item 148570784719.

rs1485707847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218263418 (GRCh38)
2:219128141 (GRCh37)
Canonical SPDI:: NC_000002.12:218263417:C:A,NC_000002.12:218263417:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.218263418C>A, NC_000002.12:g.218263418C>T, NC_000002.11:g.219128141C>A, NC_000002.11:g.219128141C>T, NG_033036.1:g.11753G>T, NG_033036.1:g.11753G>A, NM_170699.3:c.694C>A, NM_170699.3:c.694C>T, NM_170699.2:c.694C>A, NM_170699.2:c.694C>T, NM_001077191.2:c.694C>A, NM_001077191.2:c.694C>T, NM_001077191.1:c.694C>A, NM_001077191.1:c.694C>T, NM_001321950.2:c.694C>A, NM_001321950.2:c.694C>T, NM_001321950.1:c.694C>A, NM_001321950.1:c.694C>T, NM_001077194.2:c.694C>A, NM_001077194.2:c.694C>T, NM_001077194.1:c.694C>A, NM_001077194.1:c.694C>T, XM_011510743.1:c.694C>A, XM_011510743.1:c.694C>T, NP_733800.1:p.Leu232Ile, NP_733800.1:p.Leu232Phe, NP_001070659.1:p.Leu232Ile, NP_001070659.1:p.Leu232Phe, NP_001308879.1:p.Leu232Ile, NP_001308879.1:p.Leu232Phe, NP_001070662.1:p.Leu232Ile, NP_001070662.1:p.Leu232Phe, XP_011509045.1:p.Leu232Ile, XP_011509045.1:p.Leu232Phe

Select item 148529747020.

rs1485297470 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:218262625 (GRCh38)
2:219127348 (GRCh37)
Canonical SPDI:: NC_000002.12:218262624:G:
Gene:: GPBAR1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218262625del, NC_000002.11:g.219127348del, NG_033036.1:g.12546del, NM_001077191.2:c.-100del, NM_001077191.1:c.-100del, NM_001077194.2:c.-100del, NM_001077194.1:c.-100del, XM_011510743.1:c.-100del

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