SNP Links for Gene (Select 54994) - SNP

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Select item 14915236831.

rs1491523683 has merged into rs11300197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:62943849 (GRCh38)
20:61575201 (GRCh37)
Canonical SPDI:: NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:62943836:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3664/1835 (1000Genomes)
HGVS:: NC_000020.11:g.62943849_62943852del, NC_000020.11:g.62943850_62943852del, NC_000020.11:g.62943851_62943852del, NC_000020.11:g.62943852del, NC_000020.11:g.62943852dup, NC_000020.11:g.62943851_62943852dup, NC_000020.11:g.62943850_62943852dup, NC_000020.11:g.62943849_62943852dup, NC_000020.11:g.62943844_62943852dup, NC_000020.10:g.61575201_61575204del, NC_000020.10:g.61575202_61575204del, NC_000020.10:g.61575203_61575204del, NC_000020.10:g.61575204del, NC_000020.10:g.61575204dup, NC_000020.10:g.61575203_61575204dup, NC_000020.10:g.61575202_61575204dup, NC_000020.10:g.61575201_61575204dup, NC_000020.10:g.61575196_61575204dup

Select item 14911036632.

rs1491103663 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTT,T,TT [Show Flanks]
Chromosome:: 20:62948801 (GRCh38)
20:61580154 (GRCh37)
Canonical SPDI:: NC_000020.11:62948801:T:TGT,NC_000020.11:62948801:T:TGTT,NC_000020.11:62948801:T:TT,NC_000020.11:62948801:T:TTT
Gene:: GID8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.62948802_62948803insGT, NC_000020.11:g.62948802_62948803insGTT, NC_000020.11:g.62948802dup, NC_000020.11:g.62948802_62948803insTT, NC_000020.10:g.61580154_61580155insGT, NC_000020.10:g.61580154_61580155insGTT, NC_000020.10:g.61580154dup, NC_000020.10:g.61580154_61580155insTT, NG_041785.1:g.1156_1157insGT, NG_041785.1:g.1156_1157insGTT, NG_041785.1:g.1156dup, NG_041785.1:g.1156_1157insTT

Select item 14910488173.

rs1491048817 has merged into rs11370226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTAATTTACTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:62948813 (GRCh38)
20:61580165 (GRCh37)
Canonical SPDI:: NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTAATTTACTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:62948803:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GID8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.62948813_62948822del, NC_000020.11:g.62948814_62948822del, NC_000020.11:g.62948815_62948822del, NC_000020.11:g.62948817_62948822del, NC_000020.11:g.62948818_62948822del, NC_000020.11:g.62948819_62948822del, NC_000020.11:g.62948820_62948822del, NC_000020.11:g.62948821_62948822del, NC_000020.11:g.62948822del, NC_000020.11:g.62948822dup, NC_000020.11:g.62948821_62948822dup, NC_000020.11:g.62948820_62948822dup, NC_000020.11:g.62948804_62948822T[22]CTTTTAATTTACTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.62948819_62948822dup, NC_000020.11:g.62948818_62948822dup, NC_000020.11:g.62948817_62948822dup, NC_000020.11:g.62948816_62948822dup, NC_000020.11:g.62948815_62948822dup, NC_000020.11:g.62948822_62948823insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.61580165_61580174del, NC_000020.10:g.61580166_61580174del, NC_000020.10:g.61580167_61580174del, NC_000020.10:g.61580169_61580174del, NC_000020.10:g.61580170_61580174del, NC_000020.10:g.61580171_61580174del, NC_000020.10:g.61580172_61580174del, NC_000020.10:g.61580173_61580174del, NC_000020.10:g.61580174del, NC_000020.10:g.61580174dup, NC_000020.10:g.61580173_61580174dup, NC_000020.10:g.61580172_61580174dup, NC_000020.10:g.61580156_61580174T[22]CTTTTAATTTACTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.61580171_61580174dup, NC_000020.10:g.61580170_61580174dup, NC_000020.10:g.61580169_61580174dup, NC_000020.10:g.61580168_61580174dup, NC_000020.10:g.61580167_61580174dup, NC_000020.10:g.61580174_61580175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041785.1:g.1167_1176del, NG_041785.1:g.1168_1176del, NG_041785.1:g.1169_1176del, NG_041785.1:g.1171_1176del, NG_041785.1:g.1172_1176del, NG_041785.1:g.1173_1176del, NG_041785.1:g.1174_1176del, NG_041785.1:g.1175_1176del, NG_041785.1:g.1176del, NG_041785.1:g.1176dup, NG_041785.1:g.1175_1176dup, NG_041785.1:g.1174_1176dup, NG_041785.1:g.1158_1176T[22]CTTTTAATTTACTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041785.1:g.1173_1176dup, NG_041785.1:g.1172_1176dup, NG_041785.1:g.1171_1176dup, NG_041785.1:g.1170_1176dup, NG_041785.1:g.1169_1176dup, NG_041785.1:g.1176_1177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910304034.

rs1491030403 has merged into rs34532008 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:62940364 (GRCh38)
20:61571716 (GRCh37)
Canonical SPDI:: NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:62940351:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
-=0.5/4 (KOREAN)
HGVS:: NC_000020.11:g.62940364_62940367del, NC_000020.11:g.62940366_62940367del, NC_000020.11:g.62940367del, NC_000020.11:g.62940367dup, NC_000020.11:g.62940366_62940367dup, NC_000020.11:g.62940365_62940367dup, NC_000020.11:g.62940358_62940367dup, NC_000020.10:g.61571716_61571719del, NC_000020.10:g.61571718_61571719del, NC_000020.10:g.61571719del, NC_000020.10:g.61571719dup, NC_000020.10:g.61571718_61571719dup, NC_000020.10:g.61571717_61571719dup, NC_000020.10:g.61571710_61571719dup, NG_029496.1:g.2598_2601del, NG_029496.1:g.2600_2601del, NG_029496.1:g.2601del, NG_029496.1:g.2601dup, NG_029496.1:g.2600_2601dup, NG_029496.1:g.2599_2601dup, NG_029496.1:g.2592_2601dup

Select item 14909102195.

rs1490910219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62941759 (GRCh38)
20:61573111 (GRCh37)
Canonical SPDI:: NC_000020.11:62941758:A:G
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62941759A>G, NC_000020.10:g.61573111A>G, NG_029496.1:g.1194T>C

Select item 14907981206.

rs1490798120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62944943 (GRCh38)
20:61576295 (GRCh37)
Canonical SPDI:: NC_000020.11:62944942:A:G
Gene:: GID8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62944943A>G, NC_000020.10:g.61576295A>G, NM_017896.3:c.*31A>G, NM_017896.2:c.*31A>G, XM_047440246.1:c.*31A>G, XM_047440247.1:c.*31A>G

Select item 14906776277.

rs1490677627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:62942166 (GRCh38)
20:61573518 (GRCh37)
Canonical SPDI:: NC_000020.11:62942165:T:G
Gene:: GID8 (Varview)
Functional Consequence:: intron_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_000020.11:g.62942166T>G, NC_000020.10:g.61573518T>G, NG_029496.1:g.787A>C

Select item 14905155808.

rs1490515580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62942685 (GRCh38)
20:61574037 (GRCh37)
Canonical SPDI:: NC_000020.11:62942684:T:C
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.62942685T>C, NC_000020.10:g.61574037T>C, NG_029496.1:g.268A>G

Select item 14897319199.

rs1489731919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62947824 (GRCh38)
20:61579176 (GRCh37)
Canonical SPDI:: NC_000020.11:62947823:A:G
Gene:: GID8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62947824A>G, NC_000020.10:g.61579176A>G, NG_041785.1:g.178A>G, NM_017896.3:c.*2912A>G, NM_017896.2:c.*2912A>G, XM_047440246.1:c.*2912A>G, XM_047440247.1:c.*2912A>G

Select item 148903914910.

rs1489039149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:62944923 (GRCh38)
20:61576275 (GRCh37)
Canonical SPDI:: NC_000020.11:62944922:T:G
Gene:: GID8 (Varview)
Functional Consequence:: 3_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_000020.11:g.62944923T>G, NC_000020.10:g.61576275T>G, NM_017896.3:c.*11T>G, NM_017896.2:c.*11T>G, XM_047440246.1:c.*11T>G, XM_047440247.1:c.*11T>G

Select item 148884985811.

rs1488849858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62936136 (GRCh38)
20:61567488 (GRCh37)
Canonical SPDI:: NC_000020.11:62936135:G:A
Gene:: DIDO1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62936136G>A, NC_000020.10:g.61567488G>A, NG_029496.1:g.6817C>T

Select item 148881281012.

rs1488812810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62947883 (GRCh38)
20:61579235 (GRCh37)
Canonical SPDI:: NC_000020.11:62947882:C:A,NC_000020.11:62947882:C:T
Gene:: GID8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62947883C>A, NC_000020.11:g.62947883C>T, NC_000020.10:g.61579235C>A, NC_000020.10:g.61579235C>T, NG_041785.1:g.237C>A, NG_041785.1:g.237C>T, NM_017896.3:c.*2971C>A, NM_017896.3:c.*2971C>T, NM_017896.2:c.*2971C>A, NM_017896.2:c.*2971C>T, XM_047440246.1:c.*2971C>A, XM_047440246.1:c.*2971C>T, XM_047440247.1:c.*2971C>A, XM_047440247.1:c.*2971C>T

Select item 148868877113.

rs1488688771 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 20:62940060 (GRCh38)
20:61571412 (GRCh37)
Canonical SPDI:: NC_000020.11:62940052:AAACAAACAAA:AAACAAA
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.62940056CAAA[1], NC_000020.10:g.61571408CAAA[1], NG_029496.1:g.2893GTTT[1]

Select item 148856372414.

rs1488563724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62938057 (GRCh38)
20:61569409 (GRCh37)
Canonical SPDI:: NC_000020.11:62938056:G:A
Gene:: DIDO1 (Varview), GID8 (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_000020.11:g.62938057G>A, NC_000020.10:g.61569409G>A, NG_029496.1:g.4896C>T

Select item 148840083615.

rs1488400836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62940389 (GRCh38)
20:61571741 (GRCh37)
Canonical SPDI:: NC_000020.11:62940388:G:A,NC_000020.11:62940388:G:T
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62940389G>A, NC_000020.11:g.62940389G>T, NC_000020.10:g.61571741G>A, NC_000020.10:g.61571741G>T, NG_029496.1:g.2564C>T, NG_029496.1:g.2564C>A

Select item 148831058916.

rs1488310589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:62940100 (GRCh38)
20:61571452 (GRCh37)
Canonical SPDI:: NC_000020.11:62940099:A:C,NC_000020.11:62940099:A:G
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62940100A>C, NC_000020.11:g.62940100A>G, NC_000020.10:g.61571452A>C, NC_000020.10:g.61571452A>G, NG_029496.1:g.2853T>G, NG_029496.1:g.2853T>C

Select item 148820483217.

rs1488204832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62946250 (GRCh38)
20:61577602 (GRCh37)
Canonical SPDI:: NC_000020.11:62946249:G:A
Gene:: GID8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62946250G>A, NC_000020.10:g.61577602G>A, NM_017896.3:c.*1338G>A, NM_017896.2:c.*1338G>A, XM_047440246.1:c.*1338G>A, XM_047440247.1:c.*1338G>A

Select item 148815657018.

rs1488156570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62947075 (GRCh38)
20:61578427 (GRCh37)
Canonical SPDI:: NC_000020.11:62947074:T:C
Gene:: GID8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62947075T>C, NC_000020.10:g.61578427T>C, NM_017896.3:c.*2163T>C, NM_017896.2:c.*2163T>C, XM_047440246.1:c.*2163T>C, XM_047440247.1:c.*2163T>C

Select item 148791708619.

rs1487917086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62937478 (GRCh38)
20:61568830 (GRCh37)
Canonical SPDI:: NC_000020.11:62937477:C:T
Gene:: DIDO1 (Varview), GID8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62937478C>T, NC_000020.10:g.61568830C>T, NG_029496.1:g.5475G>A

Select item 148781489920.

rs1487814899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62944262 (GRCh38)
20:61575614 (GRCh37)
Canonical SPDI:: NC_000020.11:62944261:C:T
Gene:: GID8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62944262C>T, NC_000020.10:g.61575614C>T

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