SNP Links for Gene (Select 2802) - SNP

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Select item 14915447781.

rs1491544778 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:132821853 (GRCh38)
12:133398439 (GRCh37)
Canonical SPDI:: NC_000012.12:132821852:CA:
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.132821853_132821854del, NC_000012.11:g.133398439_133398440del, NG_029887.1:g.11987_11988del

Select item 14915438232.

rs1491543823 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:132770232 (GRCh38)
12:133346818 (GRCh37)
Canonical SPDI:: NC_000012.12:132770231:CA:
Gene:: GOLGA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000012.12:g.132770232_132770233del, NC_000012.11:g.133346818_133346819del, NG_029887.1:g.63608_63609del, NM_005895.4:c.*2872_*2873del, NM_005895.3:c.*2872_*2873del, NM_001389685.1:c.*2872_*2873del, NM_001389687.1:c.*2872_*2873del, NM_001389688.1:c.*2872_*2873del, NM_001389683.1:c.*2872_*2873del, NM_001389684.1:c.*2872_*2873del, NM_001389686.1:c.*2872_*2873del, NM_001389689.1:c.*2872_*2873del, XM_005266167.5:c.*2872_*2873del, XM_005266167.4:c.*2872_*2873del, XM_005266167.3:c.*2872_*2873del, XM_005266167.2:c.*2872_*2873del, XM_005266167.1:c.*2872_*2873del, XM_011534794.3:c.*2872_*2873del, XM_011534794.2:c.*2872_*2873del, XM_011534794.1:c.*2872_*2873del, XM_024448941.2:c.*2872_*2873del, XM_024448941.1:c.*2872_*2873del, XM_024448940.2:c.*2872_*2873del, XM_024448940.1:c.*2872_*2873del, XM_047428709.1:c.*2872_*2873del, XM_047428705.1:c.*2872_*2873del, XM_047428708.1:c.*2872_*2873del, XM_047428707.1:c.*2872_*2873del, XM_047428706.1:c.*2872_*2873del

Select item 14915424013.

rs1491542401 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:132801659 (GRCh38)
12:133378245 (GRCh37)
Canonical SPDI:: NC_000012.12:132801657:ACA:A
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000654/12 (ALFA)
-=0.00093/4 (Estonian)
-=0.000937/6 (1000Genomes)
-=0.001096/290 (TOPMED)
-=0.001196/144 (GnomAD)
HGVS:: NC_000012.12:g.132801659_132801660del, NC_000012.11:g.133378245_133378246del, NG_029887.1:g.32182_32183del

Select item 14915247744.

rs1491524774 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:132812230 (GRCh38)
12:133388817 (GRCh37)
Canonical SPDI:: NC_000012.12:132812230::A
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00363/43 (ALFA)
A=0.00021/3 (TOMMO)
A=0.00851/631 (GnomAD)
A=0.01235/6 (NorthernSweden)
HGVS:: NC_000012.12:g.132812230_132812231insA, NC_000012.11:g.133388816_133388817insA, NG_029887.1:g.21610_21611insT

Select item 14914461375.

rs1491446137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:132780097 (GRCh38)
12:133356683 (GRCh37)
Canonical SPDI:: NC_000012.12:132780093:CACAC:CAC
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.00008/7 (GnomAD)
HGVS:: NC_000012.12:g.132780095AC[1], NC_000012.11:g.133356681AC[1], NG_029887.1:g.53744TG[1]

Select item 14914270286.

rs1491427028 has merged into rs1156328379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:132812233 (GRCh38)
12:133388819 (GRCh37)
Canonical SPDI:: NC_000012.12:132812229:TTTTTTTT:TTT,NC_000012.12:132812229:TTTTTTTT:TTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTTTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTTTTTTT,NC_000012.12:132812229:TTTTTTTT:TTTTTTTTTTTTT
Gene:: GOLGA3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.132812233_132812237del, NC_000012.12:g.132812235_132812237del, NC_000012.12:g.132812236_132812237del, NC_000012.12:g.132812237del, NC_000012.12:g.132812237dup, NC_000012.12:g.132812236_132812237dup, NC_000012.12:g.132812235_132812237dup, NC_000012.12:g.132812233_132812237dup, NC_000012.11:g.133388819_133388823del, NC_000012.11:g.133388821_133388823del, NC_000012.11:g.133388822_133388823del, NC_000012.11:g.133388823del, NC_000012.11:g.133388823dup, NC_000012.11:g.133388822_133388823dup, NC_000012.11:g.133388821_133388823dup, NC_000012.11:g.133388819_133388823dup, NG_029887.1:g.21607_21611del, NG_029887.1:g.21609_21611del, NG_029887.1:g.21610_21611del, NG_029887.1:g.21611del, NG_029887.1:g.21611dup, NG_029887.1:g.21610_21611dup, NG_029887.1:g.21609_21611dup, NG_029887.1:g.21607_21611dup

Select item 14913018427.

rs1491301842 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:132786791 (GRCh38)
12:133363377 (GRCh37)
Canonical SPDI:: NC_000012.12:132786788:TGTG:TG
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0.000304/7 (ALFA)
-=0./0 (TWINSUK)
-=0.000335/47 (GnomAD)
-=0.000336/89 (TOPMED)
-=0.000394/99 (GnomAD_exomes)
-=0.000404/49 (ExAC)
-=0.000639/8 (GoESP)
-=0.000799/4 (1000Genomes)
-=0.001038/4 (ALSPAC)
HGVS:: NC_000012.12:g.132786789TG[1], NC_000012.11:g.133363375TG[1], NG_029887.1:g.47049CA[1]

Select item 14911972528.

rs1491197252 has merged into rs10553966 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:132770243 (GRCh38)
12:133346829 (GRCh37)
Canonical SPDI:: NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:132770232:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOLGA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.2684/1344 (1000Genomes)
HGVS:: NC_000012.12:g.132770243_132770250del, NC_000012.12:g.132770245_132770250del, NC_000012.12:g.132770246_132770250del, NC_000012.12:g.132770247_132770250del, NC_000012.12:g.132770248_132770250del, NC_000012.12:g.132770249_132770250del, NC_000012.12:g.132770250del, NC_000012.12:g.132770250dup, NC_000012.12:g.132770249_132770250dup, NC_000012.12:g.132770244_132770250dup, NC_000012.11:g.133346829_133346836del, NC_000012.11:g.133346831_133346836del, NC_000012.11:g.133346832_133346836del, NC_000012.11:g.133346833_133346836del, NC_000012.11:g.133346834_133346836del, NC_000012.11:g.133346835_133346836del, NC_000012.11:g.133346836del, NC_000012.11:g.133346836dup, NC_000012.11:g.133346835_133346836dup, NC_000012.11:g.133346830_133346836dup, NG_029887.1:g.63601_63608del, NG_029887.1:g.63603_63608del, NG_029887.1:g.63604_63608del, NG_029887.1:g.63605_63608del, NG_029887.1:g.63606_63608del, NG_029887.1:g.63607_63608del, NG_029887.1:g.63608del, NG_029887.1:g.63608dup, NG_029887.1:g.63607_63608dup, NG_029887.1:g.63602_63608dup, NM_005895.4:c.*2865_*2872del, NM_005895.4:c.*2867_*2872del, NM_005895.4:c.*2868_*2872del, NM_005895.4:c.*2869_*2872del, NM_005895.4:c.*2870_*2872del, NM_005895.4:c.*2871_*2872del, NM_005895.4:c.*2872del, NM_005895.4:c.*2872dup, NM_005895.4:c.*2871_*2872dup, NM_005895.4:c.*2866_*2872dup, NM_005895.3:c.*2865_*2872del, NM_005895.3:c.*2867_*2872del, NM_005895.3:c.*2868_*2872del, NM_005895.3:c.*2869_*2872del, NM_005895.3:c.*2870_*2872del, NM_005895.3:c.*2871_*2872del, NM_005895.3:c.*2872del, NM_005895.3:c.*2872dup, NM_005895.3:c.*2871_*2872dup, NM_005895.3:c.*2866_*2872dup, NM_001389685.1:c.*2865_*2872del, NM_001389685.1:c.*2867_*2872del, NM_001389685.1:c.*2868_*2872del, NM_001389685.1:c.*2869_*2872del, NM_001389685.1:c.*2870_*2872del, NM_001389685.1:c.*2871_*2872del, NM_001389685.1:c.*2872del, NM_001389685.1:c.*2872dup, NM_001389685.1:c.*2871_*2872dup, NM_001389685.1:c.*2866_*2872dup, NM_001389687.1:c.*2865_*2872del, NM_001389687.1:c.*2867_*2872del, NM_001389687.1:c.*2868_*2872del, NM_001389687.1:c.*2869_*2872del, NM_001389687.1:c.*2870_*2872del, NM_001389687.1:c.*2871_*2872del, NM_001389687.1:c.*2872del, NM_001389687.1:c.*2872dup, NM_001389687.1:c.*2871_*2872dup, NM_001389687.1:c.*2866_*2872dup, NM_001389688.1:c.*2865_*2872del, NM_001389688.1:c.*2867_*2872del, NM_001389688.1:c.*2868_*2872del, NM_001389688.1:c.*2869_*2872del, NM_001389688.1:c.*2870_*2872del, NM_001389688.1:c.*2871_*2872del, NM_001389688.1:c.*2872del, NM_001389688.1:c.*2872dup, NM_001389688.1:c.*2871_*2872dup, NM_001389688.1:c.*2866_*2872dup, NM_001389683.1:c.*2865_*2872del, NM_001389683.1:c.*2867_*2872del, NM_001389683.1:c.*2868_*2872del, NM_001389683.1:c.*2869_*2872del, NM_001389683.1:c.*2870_*2872del, NM_001389683.1:c.*2871_*2872del, NM_001389683.1:c.*2872del, NM_001389683.1:c.*2872dup, NM_001389683.1:c.*2871_*2872dup, NM_001389683.1:c.*2866_*2872dup, NM_001389684.1:c.*2865_*2872del, NM_001389684.1:c.*2867_*2872del, NM_001389684.1:c.*2868_*2872del, NM_001389684.1:c.*2869_*2872del, NM_001389684.1:c.*2870_*2872del, NM_001389684.1:c.*2871_*2872del, NM_001389684.1:c.*2872del, NM_001389684.1:c.*2872dup, NM_001389684.1:c.*2871_*2872dup, NM_001389684.1:c.*2866_*2872dup, NM_001389686.1:c.*2865_*2872del, NM_001389686.1:c.*2867_*2872del, NM_001389686.1:c.*2868_*2872del, NM_001389686.1:c.*2869_*2872del, NM_001389686.1:c.*2870_*2872del, NM_001389686.1:c.*2871_*2872del, NM_001389686.1:c.*2872del, NM_001389686.1:c.*2872dup, NM_001389686.1:c.*2871_*2872dup, NM_001389686.1:c.*2866_*2872dup, NM_001389689.1:c.*2865_*2872del, NM_001389689.1:c.*2867_*2872del, NM_001389689.1:c.*2868_*2872del, NM_001389689.1:c.*2869_*2872del, NM_001389689.1:c.*2870_*2872del, NM_001389689.1:c.*2871_*2872del, NM_001389689.1:c.*2872del, NM_001389689.1:c.*2872dup, NM_001389689.1:c.*2871_*2872dup, NM_001389689.1:c.*2866_*2872dup, XM_005266167.5:c.*2865_*2872del, XM_005266167.5:c.*2867_*2872del, XM_005266167.5:c.*2868_*2872del, XM_005266167.5:c.*2869_*2872del, XM_005266167.5:c.*2870_*2872del, XM_005266167.5:c.*2871_*2872del, XM_005266167.5:c.*2872del, XM_005266167.5:c.*2872dup, XM_005266167.5:c.*2871_*2872dup, XM_005266167.5:c.*2866_*2872dup, XM_005266167.4:c.*2865_*2872del, XM_005266167.4:c.*2867_*2872del, XM_005266167.4:c.*2868_*2872del, XM_005266167.4:c.*2869_*2872del, XM_005266167.4:c.*2870_*2872del, XM_005266167.4:c.*2871_*2872del, XM_005266167.4:c.*2872del, XM_005266167.4:c.*2872dup, XM_005266167.4:c.*2871_*2872dup, XM_005266167.4:c.*2866_*2872dup, XM_005266167.3:c.*2865_*2872del, XM_005266167.3:c.*2867_*2872del, XM_005266167.3:c.*2868_*2872del, XM_005266167.3:c.*2869_*2872del, XM_005266167.3:c.*2870_*2872del, XM_005266167.3:c.*2871_*2872del, XM_005266167.3:c.*2872del, XM_005266167.3:c.*2872dup, XM_005266167.3:c.*2871_*2872dup, XM_005266167.3:c.*2866_*2872dup, XM_005266167.2:c.*2865_*2872del, XM_005266167.2:c.*2867_*2872del, XM_005266167.2:c.*2868_*2872del, XM_005266167.2:c.*2869_*2872del, XM_005266167.2:c.*2870_*2872del, XM_005266167.2:c.*2871_*2872del, XM_005266167.2:c.*2872del, XM_005266167.2:c.*2872dup, XM_005266167.2:c.*2871_*2872dup, XM_005266167.2:c.*2866_*2872dup, XM_005266167.1:c.*2865_*2872del, XM_005266167.1:c.*2867_*2872del, XM_005266167.1:c.*2868_*2872del, XM_005266167.1:c.*2869_*2872del, XM_005266167.1:c.*2870_*2872del, XM_005266167.1:c.*2871_*2872del, XM_005266167.1:c.*2872del, XM_005266167.1:c.*2872dup, XM_005266167.1:c.*2871_*2872dup, XM_005266167.1:c.*2866_*2872dup, XM_011534794.3:c.*2865_*2872del, XM_011534794.3:c.*2867_*2872del, XM_011534794.3:c.*2868_*2872del, XM_011534794.3:c.*2869_*2872del, XM_011534794.3:c.*2870_*2872del, XM_011534794.3:c.*2871_*2872del, XM_011534794.3:c.*2872del, XM_011534794.3:c.*2872dup, XM_011534794.3:c.*2871_*2872dup, XM_011534794.3:c.*2866_*2872dup, XM_011534794.2:c.*2865_*2872del, XM_011534794.2:c.*2867_*2872del, XM_011534794.2:c.*2868_*2872del, XM_011534794.2:c.*2869_*2872del, XM_011534794.2:c.*2870_*2872del, XM_011534794.2:c.*2871_*2872del, XM_011534794.2:c.*2872del, XM_011534794.2:c.*2872dup, XM_011534794.2:c.*2871_*2872dup, XM_011534794.2:c.*2866_*2872dup, XM_011534794.1:c.*2865_*2872del, XM_011534794.1:c.*2867_*2872del, XM_011534794.1:c.*2868_*2872del, XM_011534794.1:c.*2869_*2872del, XM_011534794.1:c.*2870_*2872del, XM_011534794.1:c.*2871_*2872del, XM_011534794.1:c.*2872del, XM_011534794.1:c.*2872dup, XM_011534794.1:c.*2871_*2872dup, XM_011534794.1:c.*2866_*2872dup, XM_024448941.2:c.*2865_*2872del, XM_024448941.2:c.*2867_*2872del, XM_024448941.2:c.*2868_*2872del, XM_024448941.2:c.*2869_*2872del, XM_024448941.2:c.*2870_*2872del, XM_024448941.2:c.*2871_*2872del, XM_024448941.2:c.*2872del, XM_024448941.2:c.*2872dup, XM_024448941.2:c.*2871_*2872dup, XM_024448941.2:c.*2866_*2872dup, XM_024448941.1:c.*2865_*2872del, XM_024448941.1:c.*2867_*2872del, XM_024448941.1:c.*2868_*2872del, XM_024448941.1:c.*2869_*2872del, XM_024448941.1:c.*2870_*2872del, XM_024448941.1:c.*2871_*2872del, XM_024448941.1:c.*2872del, XM_024448941.1:c.*2872dup, XM_024448941.1:c.*2871_*2872dup, XM_024448941.1:c.*2866_*2872dup, XM_024448940.2:c.*2865_*2872del, XM_024448940.2:c.*2867_*2872del, XM_024448940.2:c.*2868_*2872del, XM_024448940.2:c.*2869_*2872del, XM_024448940.2:c.*2870_*2872del, XM_024448940.2:c.*2871_*2872del, XM_024448940.2:c.*2872del, XM_024448940.2:c.*2872dup, XM_024448940.2:c.*2871_*2872dup, XM_024448940.2:c.*2866_*2872dup, XM_024448940.1:c.*2865_*2872del, XM_024448940.1:c.*2867_*2872del, XM_024448940.1:c.*2868_*2872del, XM_024448940.1:c.*2869_*2872del, XM_024448940.1:c.*2870_*2872del, XM_024448940.1:c.*2871_*2872del, XM_024448940.1:c.*2872del, XM_024448940.1:c.*2872dup, XM_024448940.1:c.*2871_*2872dup, XM_024448940.1:c.*2866_*2872dup, XM_047428709.1:c.*2865_*2872del, XM_047428709.1:c.*2867_*2872del, XM_047428709.1:c.*2868_*2872del, XM_047428709.1:c.*2869_*2872del, XM_047428709.1:c.*2870_*2872del, XM_047428709.1:c.*2871_*2872del, XM_047428709.1:c.*2872del, XM_047428709.1:c.*2872dup, XM_047428709.1:c.*2871_*2872dup, XM_047428709.1:c.*2866_*2872dup, XM_047428705.1:c.*2865_*2872del, XM_047428705.1:c.*2867_*2872del, XM_047428705.1:c.*2868_*2872del, XM_047428705.1:c.*2869_*2872del, XM_047428705.1:c.*2870_*2872del, XM_047428705.1:c.*2871_*2872del, XM_047428705.1:c.*2872del, XM_047428705.1:c.*2872dup, XM_047428705.1:c.*2871_*2872dup, XM_047428705.1:c.*2866_*2872dup, XM_047428708.1:c.*2865_*2872del, XM_047428708.1:c.*2867_*2872del, XM_047428708.1:c.*2868_*2872del, XM_047428708.1:c.*2869_*2872del, XM_047428708.1:c.*2870_*2872del, XM_047428708.1:c.*2871_*2872del, XM_047428708.1:c.*2872del, XM_047428708.1:c.*2872dup, XM_047428708.1:c.*2871_*2872dup, XM_047428708.1:c.*2866_*2872dup, XM_047428707.1:c.*2865_*2872del, XM_047428707.1:c.*2867_*2872del, XM_047428707.1:c.*2868_*2872del, XM_047428707.1:c.*2869_*2872del, XM_047428707.1:c.*2870_*2872del, XM_047428707.1:c.*2871_*2872del, XM_047428707.1:c.*2872del, XM_047428707.1:c.*2872dup, XM_047428707.1:c.*2871_*2872dup, XM_047428707.1:c.*2866_*2872dup, XM_047428706.1:c.*2865_*2872del, XM_047428706.1:c.*2867_*2872del, XM_047428706.1:c.*2868_*2872del, XM_047428706.1:c.*2869_*2872del, XM_047428706.1:c.*2870_*2872del, XM_047428706.1:c.*2871_*2872del, XM_047428706.1:c.*2872del, XM_047428706.1:c.*2872dup, XM_047428706.1:c.*2871_*2872dup, XM_047428706.1:c.*2866_*2872dup

Select item 14911358669.

rs1491135866 has merged into rs11301977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:132821862 (GRCh38)
12:133398448 (GRCh37)
Canonical SPDI:: NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132821853:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.0008/3 (TWINSUK)
A=0.0018/7 (ALSPAC)
A=0.3221/1613 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000012.12:g.132821862_132821874del, NC_000012.12:g.132821864_132821874del, NC_000012.12:g.132821865_132821874del, NC_000012.12:g.132821866_132821874del, NC_000012.12:g.132821867_132821874del, NC_000012.12:g.132821868_132821874del, NC_000012.12:g.132821869_132821874del, NC_000012.12:g.132821870_132821874del, NC_000012.12:g.132821871_132821874del, NC_000012.12:g.132821872_132821874del, NC_000012.12:g.132821873_132821874del, NC_000012.12:g.132821874del, NC_000012.12:g.132821874dup, NC_000012.12:g.132821873_132821874dup, NC_000012.12:g.132821872_132821874dup, NC_000012.12:g.132821871_132821874dup, NC_000012.12:g.132821870_132821874dup, NC_000012.11:g.133398448_133398460del, NC_000012.11:g.133398450_133398460del, NC_000012.11:g.133398451_133398460del, NC_000012.11:g.133398452_133398460del, NC_000012.11:g.133398453_133398460del, NC_000012.11:g.133398454_133398460del, NC_000012.11:g.133398455_133398460del, NC_000012.11:g.133398456_133398460del, NC_000012.11:g.133398457_133398460del, NC_000012.11:g.133398458_133398460del, NC_000012.11:g.133398459_133398460del, NC_000012.11:g.133398460del, NC_000012.11:g.133398460dup, NC_000012.11:g.133398459_133398460dup, NC_000012.11:g.133398458_133398460dup, NC_000012.11:g.133398457_133398460dup, NC_000012.11:g.133398456_133398460dup, NG_029887.1:g.11975_11987del, NG_029887.1:g.11977_11987del, NG_029887.1:g.11978_11987del, NG_029887.1:g.11979_11987del, NG_029887.1:g.11980_11987del, NG_029887.1:g.11981_11987del, NG_029887.1:g.11982_11987del, NG_029887.1:g.11983_11987del, NG_029887.1:g.11984_11987del, NG_029887.1:g.11985_11987del, NG_029887.1:g.11986_11987del, NG_029887.1:g.11987del, NG_029887.1:g.11987dup, NG_029887.1:g.11986_11987dup, NG_029887.1:g.11985_11987dup, NG_029887.1:g.11984_11987dup, NG_029887.1:g.11983_11987dup

Select item 149102697810.

rs1491026978 has merged into rs34381645 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:132772552 (GRCh38)
12:133349138 (GRCh37)
Canonical SPDI:: NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132772543:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOLGA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.3536/1771 (1000Genomes)
HGVS:: NC_000012.12:g.132772552_132772565del, NC_000012.12:g.132772553_132772565del, NC_000012.12:g.132772555_132772565del, NC_000012.12:g.132772556_132772565del, NC_000012.12:g.132772557_132772565del, NC_000012.12:g.132772558_132772565del, NC_000012.12:g.132772560_132772565del, NC_000012.12:g.132772561_132772565del, NC_000012.12:g.132772562_132772565del, NC_000012.12:g.132772563_132772565del, NC_000012.12:g.132772564_132772565del, NC_000012.12:g.132772565del, NC_000012.12:g.132772565dup, NC_000012.12:g.132772564_132772565dup, NC_000012.12:g.132772563_132772565dup, NC_000012.12:g.132772562_132772565dup, NC_000012.12:g.132772561_132772565dup, NC_000012.12:g.132772560_132772565dup, NC_000012.12:g.132772559_132772565dup, NC_000012.12:g.132772558_132772565dup, NC_000012.12:g.132772557_132772565dup, NC_000012.12:g.132772556_132772565dup, NC_000012.12:g.132772555_132772565dup, NC_000012.12:g.132772554_132772565dup, NC_000012.12:g.132772553_132772565dup, NC_000012.12:g.132772548_132772565dup, NC_000012.12:g.132772565_132772566insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133349138_133349151del, NC_000012.11:g.133349139_133349151del, NC_000012.11:g.133349141_133349151del, NC_000012.11:g.133349142_133349151del, NC_000012.11:g.133349143_133349151del, NC_000012.11:g.133349144_133349151del, NC_000012.11:g.133349146_133349151del, NC_000012.11:g.133349147_133349151del, NC_000012.11:g.133349148_133349151del, NC_000012.11:g.133349149_133349151del, NC_000012.11:g.133349150_133349151del, NC_000012.11:g.133349151del, NC_000012.11:g.133349151dup, NC_000012.11:g.133349150_133349151dup, NC_000012.11:g.133349149_133349151dup, NC_000012.11:g.133349148_133349151dup, NC_000012.11:g.133349147_133349151dup, NC_000012.11:g.133349146_133349151dup, NC_000012.11:g.133349145_133349151dup, NC_000012.11:g.133349144_133349151dup, NC_000012.11:g.133349143_133349151dup, NC_000012.11:g.133349142_133349151dup, NC_000012.11:g.133349141_133349151dup, NC_000012.11:g.133349140_133349151dup, NC_000012.11:g.133349139_133349151dup, NC_000012.11:g.133349134_133349151dup, NC_000012.11:g.133349151_133349152insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029887.1:g.61284_61297del, NG_029887.1:g.61285_61297del, NG_029887.1:g.61287_61297del, NG_029887.1:g.61288_61297del, NG_029887.1:g.61289_61297del, NG_029887.1:g.61290_61297del, NG_029887.1:g.61292_61297del, NG_029887.1:g.61293_61297del, NG_029887.1:g.61294_61297del, NG_029887.1:g.61295_61297del, NG_029887.1:g.61296_61297del, NG_029887.1:g.61297del, NG_029887.1:g.61297dup, NG_029887.1:g.61296_61297dup, NG_029887.1:g.61295_61297dup, NG_029887.1:g.61294_61297dup, NG_029887.1:g.61293_61297dup, NG_029887.1:g.61292_61297dup, NG_029887.1:g.61291_61297dup, NG_029887.1:g.61290_61297dup, NG_029887.1:g.61289_61297dup, NG_029887.1:g.61288_61297dup, NG_029887.1:g.61287_61297dup, NG_029887.1:g.61286_61297dup, NG_029887.1:g.61285_61297dup, NG_029887.1:g.61280_61297dup, NG_029887.1:g.61297_61298insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005895.4:c.*548_*561del, NM_005895.4:c.*549_*561del, NM_005895.4:c.*551_*561del, NM_005895.4:c.*552_*561del, NM_005895.4:c.*553_*561del, NM_005895.4:c.*554_*561del, NM_005895.4:c.*556_*561del, NM_005895.4:c.*557_*561del, NM_005895.4:c.*558_*561del, NM_005895.4:c.*559_*561del, NM_005895.4:c.*560_*561del, NM_005895.4:c.*561del, NM_005895.4:c.*561dup, NM_005895.4:c.*560_*561dup, NM_005895.4:c.*559_*561dup, NM_005895.4:c.*558_*561dup, NM_005895.4:c.*557_*561dup, NM_005895.4:c.*556_*561dup, NM_005895.4:c.*555_*561dup, NM_005895.4:c.*554_*561dup, NM_005895.4:c.*553_*561dup, NM_005895.4:c.*552_*561dup, NM_005895.4:c.*551_*561dup, NM_005895.4:c.*550_*561dup, NM_005895.4:c.*549_*561dup, NM_005895.4:c.*544_*561dup, NM_005895.4:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005895.3:c.*548_*561del, NM_005895.3:c.*549_*561del, NM_005895.3:c.*551_*561del, NM_005895.3:c.*552_*561del, NM_005895.3:c.*553_*561del, NM_005895.3:c.*554_*561del, NM_005895.3:c.*556_*561del, NM_005895.3:c.*557_*561del, NM_005895.3:c.*558_*561del, NM_005895.3:c.*559_*561del, NM_005895.3:c.*560_*561del, NM_005895.3:c.*561del, NM_005895.3:c.*561dup, NM_005895.3:c.*560_*561dup, NM_005895.3:c.*559_*561dup, NM_005895.3:c.*558_*561dup, NM_005895.3:c.*557_*561dup, NM_005895.3:c.*556_*561dup, NM_005895.3:c.*555_*561dup, NM_005895.3:c.*554_*561dup, NM_005895.3:c.*553_*561dup, NM_005895.3:c.*552_*561dup, NM_005895.3:c.*551_*561dup, NM_005895.3:c.*550_*561dup, NM_005895.3:c.*549_*561dup, NM_005895.3:c.*544_*561dup, NM_005895.3:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389685.1:c.*548_*561del, NM_001389685.1:c.*549_*561del, NM_001389685.1:c.*551_*561del, NM_001389685.1:c.*552_*561del, NM_001389685.1:c.*553_*561del, NM_001389685.1:c.*554_*561del, NM_001389685.1:c.*556_*561del, NM_001389685.1:c.*557_*561del, NM_001389685.1:c.*558_*561del, NM_001389685.1:c.*559_*561del, NM_001389685.1:c.*560_*561del, NM_001389685.1:c.*561del, NM_001389685.1:c.*561dup, NM_001389685.1:c.*560_*561dup, NM_001389685.1:c.*559_*561dup, NM_001389685.1:c.*558_*561dup, NM_001389685.1:c.*557_*561dup, NM_001389685.1:c.*556_*561dup, NM_001389685.1:c.*555_*561dup, NM_001389685.1:c.*554_*561dup, NM_001389685.1:c.*553_*561dup, NM_001389685.1:c.*552_*561dup, NM_001389685.1:c.*551_*561dup, NM_001389685.1:c.*550_*561dup, NM_001389685.1:c.*549_*561dup, NM_001389685.1:c.*544_*561dup, NM_001389685.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389687.1:c.*548_*561del, NM_001389687.1:c.*549_*561del, NM_001389687.1:c.*551_*561del, NM_001389687.1:c.*552_*561del, NM_001389687.1:c.*553_*561del, NM_001389687.1:c.*554_*561del, NM_001389687.1:c.*556_*561del, NM_001389687.1:c.*557_*561del, NM_001389687.1:c.*558_*561del, NM_001389687.1:c.*559_*561del, NM_001389687.1:c.*560_*561del, NM_001389687.1:c.*561del, NM_001389687.1:c.*561dup, NM_001389687.1:c.*560_*561dup, NM_001389687.1:c.*559_*561dup, NM_001389687.1:c.*558_*561dup, NM_001389687.1:c.*557_*561dup, NM_001389687.1:c.*556_*561dup, NM_001389687.1:c.*555_*561dup, NM_001389687.1:c.*554_*561dup, NM_001389687.1:c.*553_*561dup, NM_001389687.1:c.*552_*561dup, NM_001389687.1:c.*551_*561dup, NM_001389687.1:c.*550_*561dup, NM_001389687.1:c.*549_*561dup, NM_001389687.1:c.*544_*561dup, NM_001389687.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389688.1:c.*548_*561del, NM_001389688.1:c.*549_*561del, NM_001389688.1:c.*551_*561del, NM_001389688.1:c.*552_*561del, NM_001389688.1:c.*553_*561del, NM_001389688.1:c.*554_*561del, NM_001389688.1:c.*556_*561del, NM_001389688.1:c.*557_*561del, NM_001389688.1:c.*558_*561del, NM_001389688.1:c.*559_*561del, NM_001389688.1:c.*560_*561del, NM_001389688.1:c.*561del, NM_001389688.1:c.*561dup, NM_001389688.1:c.*560_*561dup, NM_001389688.1:c.*559_*561dup, NM_001389688.1:c.*558_*561dup, NM_001389688.1:c.*557_*561dup, NM_001389688.1:c.*556_*561dup, NM_001389688.1:c.*555_*561dup, NM_001389688.1:c.*554_*561dup, NM_001389688.1:c.*553_*561dup, NM_001389688.1:c.*552_*561dup, NM_001389688.1:c.*551_*561dup, NM_001389688.1:c.*550_*561dup, NM_001389688.1:c.*549_*561dup, NM_001389688.1:c.*544_*561dup, NM_001389688.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389683.1:c.*548_*561del, NM_001389683.1:c.*549_*561del, NM_001389683.1:c.*551_*561del, NM_001389683.1:c.*552_*561del, NM_001389683.1:c.*553_*561del, NM_001389683.1:c.*554_*561del, NM_001389683.1:c.*556_*561del, NM_001389683.1:c.*557_*561del, NM_001389683.1:c.*558_*561del, NM_001389683.1:c.*559_*561del, NM_001389683.1:c.*560_*561del, NM_001389683.1:c.*561del, NM_001389683.1:c.*561dup, NM_001389683.1:c.*560_*561dup, NM_001389683.1:c.*559_*561dup, NM_001389683.1:c.*558_*561dup, NM_001389683.1:c.*557_*561dup, NM_001389683.1:c.*556_*561dup, NM_001389683.1:c.*555_*561dup, NM_001389683.1:c.*554_*561dup, NM_001389683.1:c.*553_*561dup, NM_001389683.1:c.*552_*561dup, NM_001389683.1:c.*551_*561dup, NM_001389683.1:c.*550_*561dup, NM_001389683.1:c.*549_*561dup, NM_001389683.1:c.*544_*561dup, NM_001389683.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389684.1:c.*548_*561del, NM_001389684.1:c.*549_*561del, NM_001389684.1:c.*551_*561del, NM_001389684.1:c.*552_*561del, NM_001389684.1:c.*553_*561del, NM_001389684.1:c.*554_*561del, NM_001389684.1:c.*556_*561del, NM_001389684.1:c.*557_*561del, NM_001389684.1:c.*558_*561del, NM_001389684.1:c.*559_*561del, NM_001389684.1:c.*560_*561del, NM_001389684.1:c.*561del, NM_001389684.1:c.*561dup, NM_001389684.1:c.*560_*561dup, NM_001389684.1:c.*559_*561dup, NM_001389684.1:c.*558_*561dup, NM_001389684.1:c.*557_*561dup, NM_001389684.1:c.*556_*561dup, NM_001389684.1:c.*555_*561dup, NM_001389684.1:c.*554_*561dup, NM_001389684.1:c.*553_*561dup, NM_001389684.1:c.*552_*561dup, NM_001389684.1:c.*551_*561dup, NM_001389684.1:c.*550_*561dup, NM_001389684.1:c.*549_*561dup, NM_001389684.1:c.*544_*561dup, NM_001389684.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389686.1:c.*548_*561del, NM_001389686.1:c.*549_*561del, NM_001389686.1:c.*551_*561del, NM_001389686.1:c.*552_*561del, NM_001389686.1:c.*553_*561del, NM_001389686.1:c.*554_*561del, NM_001389686.1:c.*556_*561del, NM_001389686.1:c.*557_*561del, NM_001389686.1:c.*558_*561del, NM_001389686.1:c.*559_*561del, NM_001389686.1:c.*560_*561del, NM_001389686.1:c.*561del, NM_001389686.1:c.*561dup, NM_001389686.1:c.*560_*561dup, NM_001389686.1:c.*559_*561dup, NM_001389686.1:c.*558_*561dup, NM_001389686.1:c.*557_*561dup, NM_001389686.1:c.*556_*561dup, NM_001389686.1:c.*555_*561dup, NM_001389686.1:c.*554_*561dup, NM_001389686.1:c.*553_*561dup, NM_001389686.1:c.*552_*561dup, NM_001389686.1:c.*551_*561dup, NM_001389686.1:c.*550_*561dup, NM_001389686.1:c.*549_*561dup, NM_001389686.1:c.*544_*561dup, NM_001389686.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001389689.1:c.*548_*561del, NM_001389689.1:c.*549_*561del, NM_001389689.1:c.*551_*561del, NM_001389689.1:c.*552_*561del, NM_001389689.1:c.*553_*561del, NM_001389689.1:c.*554_*561del, NM_001389689.1:c.*556_*561del, NM_001389689.1:c.*557_*561del, NM_001389689.1:c.*558_*561del, NM_001389689.1:c.*559_*561del, NM_001389689.1:c.*560_*561del, NM_001389689.1:c.*561del, NM_001389689.1:c.*561dup, NM_001389689.1:c.*560_*561dup, NM_001389689.1:c.*559_*561dup, NM_001389689.1:c.*558_*561dup, NM_001389689.1:c.*557_*561dup, NM_001389689.1:c.*556_*561dup, NM_001389689.1:c.*555_*561dup, NM_001389689.1:c.*554_*561dup, NM_001389689.1:c.*553_*561dup, NM_001389689.1:c.*552_*561dup, NM_001389689.1:c.*551_*561dup, NM_001389689.1:c.*550_*561dup, NM_001389689.1:c.*549_*561dup, NM_001389689.1:c.*544_*561dup, NM_001389689.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005266167.5:c.*548_*561del, XM_005266167.5:c.*549_*561del, XM_005266167.5:c.*551_*561del, XM_005266167.5:c.*552_*561del, XM_005266167.5:c.*553_*561del, XM_005266167.5:c.*554_*561del, XM_005266167.5:c.*556_*561del, XM_005266167.5:c.*557_*561del, XM_005266167.5:c.*558_*561del, XM_005266167.5:c.*559_*561del, XM_005266167.5:c.*560_*561del, XM_005266167.5:c.*561del, XM_005266167.5:c.*561dup, XM_005266167.5:c.*560_*561dup, XM_005266167.5:c.*559_*561dup, XM_005266167.5:c.*558_*561dup, XM_005266167.5:c.*557_*561dup, XM_005266167.5:c.*556_*561dup, XM_005266167.5:c.*555_*561dup, XM_005266167.5:c.*554_*561dup, XM_005266167.5:c.*553_*561dup, XM_005266167.5:c.*552_*561dup, XM_005266167.5:c.*551_*561dup, XM_005266167.5:c.*550_*561dup, XM_005266167.5:c.*549_*561dup, XM_005266167.5:c.*544_*561dup, XM_005266167.5:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005266167.4:c.*548_*561del, XM_005266167.4:c.*549_*561del, XM_005266167.4:c.*551_*561del, XM_005266167.4:c.*552_*561del, XM_005266167.4:c.*553_*561del, XM_005266167.4:c.*554_*561del, XM_005266167.4:c.*556_*561del, XM_005266167.4:c.*557_*561del, XM_005266167.4:c.*558_*561del, XM_005266167.4:c.*559_*561del, XM_005266167.4:c.*560_*561del, XM_005266167.4:c.*561del, XM_005266167.4:c.*561dup, XM_005266167.4:c.*560_*561dup, XM_005266167.4:c.*559_*561dup, XM_005266167.4:c.*558_*561dup, XM_005266167.4:c.*557_*561dup, XM_005266167.4:c.*556_*561dup, XM_005266167.4:c.*555_*561dup, XM_005266167.4:c.*554_*561dup, XM_005266167.4:c.*553_*561dup, XM_005266167.4:c.*552_*561dup, XM_005266167.4:c.*551_*561dup, XM_005266167.4:c.*550_*561dup, XM_005266167.4:c.*549_*561dup, XM_005266167.4:c.*544_*561dup, XM_005266167.4:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005266167.3:c.*548_*561del, XM_005266167.3:c.*549_*561del, XM_005266167.3:c.*551_*561del, XM_005266167.3:c.*552_*561del, XM_005266167.3:c.*553_*561del, XM_005266167.3:c.*554_*561del, XM_005266167.3:c.*556_*561del, XM_005266167.3:c.*557_*561del, XM_005266167.3:c.*558_*561del, XM_005266167.3:c.*559_*561del, XM_005266167.3:c.*560_*561del, XM_005266167.3:c.*561del, XM_005266167.3:c.*561dup, XM_005266167.3:c.*560_*561dup, XM_005266167.3:c.*559_*561dup, XM_005266167.3:c.*558_*561dup, XM_005266167.3:c.*557_*561dup, XM_005266167.3:c.*556_*561dup, XM_005266167.3:c.*555_*561dup, XM_005266167.3:c.*554_*561dup, XM_005266167.3:c.*553_*561dup, XM_005266167.3:c.*552_*561dup, XM_005266167.3:c.*551_*561dup, XM_005266167.3:c.*550_*561dup, XM_005266167.3:c.*549_*561dup, XM_005266167.3:c.*544_*561dup, XM_005266167.3:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005266167.2:c.*548_*561del, XM_005266167.2:c.*549_*561del, XM_005266167.2:c.*551_*561del, XM_005266167.2:c.*552_*561del, XM_005266167.2:c.*553_*561del, XM_005266167.2:c.*554_*561del, XM_005266167.2:c.*556_*561del, XM_005266167.2:c.*557_*561del, XM_005266167.2:c.*558_*561del, XM_005266167.2:c.*559_*561del, XM_005266167.2:c.*560_*561del, XM_005266167.2:c.*561del, XM_005266167.2:c.*561dup, XM_005266167.2:c.*560_*561dup, XM_005266167.2:c.*559_*561dup, XM_005266167.2:c.*558_*561dup, XM_005266167.2:c.*557_*561dup, XM_005266167.2:c.*556_*561dup, XM_005266167.2:c.*555_*561dup, XM_005266167.2:c.*554_*561dup, XM_005266167.2:c.*553_*561dup, XM_005266167.2:c.*552_*561dup, XM_005266167.2:c.*551_*561dup, XM_005266167.2:c.*550_*561dup, XM_005266167.2:c.*549_*561dup, XM_005266167.2:c.*544_*561dup, XM_005266167.2:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005266167.1:c.*548_*561del, XM_005266167.1:c.*549_*561del, XM_005266167.1:c.*551_*561del, XM_005266167.1:c.*552_*561del, XM_005266167.1:c.*553_*561del, XM_005266167.1:c.*554_*561del, XM_005266167.1:c.*556_*561del, XM_005266167.1:c.*557_*561del, XM_005266167.1:c.*558_*561del, XM_005266167.1:c.*559_*561del, XM_005266167.1:c.*560_*561del, XM_005266167.1:c.*561del, XM_005266167.1:c.*561dup, XM_005266167.1:c.*560_*561dup, XM_005266167.1:c.*559_*561dup, XM_005266167.1:c.*558_*561dup, XM_005266167.1:c.*557_*561dup, XM_005266167.1:c.*556_*561dup, XM_005266167.1:c.*555_*561dup, XM_005266167.1:c.*554_*561dup, XM_005266167.1:c.*553_*561dup, XM_005266167.1:c.*552_*561dup, XM_005266167.1:c.*551_*561dup, XM_005266167.1:c.*550_*561dup, XM_005266167.1:c.*549_*561dup, XM_005266167.1:c.*544_*561dup, XM_005266167.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534794.3:c.*548_*561del, XM_011534794.3:c.*549_*561del, XM_011534794.3:c.*551_*561del, XM_011534794.3:c.*552_*561del, XM_011534794.3:c.*553_*561del, XM_011534794.3:c.*554_*561del, XM_011534794.3:c.*556_*561del, XM_011534794.3:c.*557_*561del, XM_011534794.3:c.*558_*561del, XM_011534794.3:c.*559_*561del, XM_011534794.3:c.*560_*561del, XM_011534794.3:c.*561del, XM_011534794.3:c.*561dup, XM_011534794.3:c.*560_*561dup, XM_011534794.3:c.*559_*561dup, XM_011534794.3:c.*558_*561dup, XM_011534794.3:c.*557_*561dup, XM_011534794.3:c.*556_*561dup, XM_011534794.3:c.*555_*561dup, XM_011534794.3:c.*554_*561dup, XM_011534794.3:c.*553_*561dup, XM_011534794.3:c.*552_*561dup, XM_011534794.3:c.*551_*561dup, XM_011534794.3:c.*550_*561dup, XM_011534794.3:c.*549_*561dup, XM_011534794.3:c.*544_*561dup, XM_011534794.3:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534794.2:c.*548_*561del, XM_011534794.2:c.*549_*561del, XM_011534794.2:c.*551_*561del, XM_011534794.2:c.*552_*561del, XM_011534794.2:c.*553_*561del, XM_011534794.2:c.*554_*561del, XM_011534794.2:c.*556_*561del, XM_011534794.2:c.*557_*561del, XM_011534794.2:c.*558_*561del, XM_011534794.2:c.*559_*561del, XM_011534794.2:c.*560_*561del, XM_011534794.2:c.*561del, XM_011534794.2:c.*561dup, XM_011534794.2:c.*560_*561dup, XM_011534794.2:c.*559_*561dup, XM_011534794.2:c.*558_*561dup, XM_011534794.2:c.*557_*561dup, XM_011534794.2:c.*556_*561dup, XM_011534794.2:c.*555_*561dup, XM_011534794.2:c.*554_*561dup, XM_011534794.2:c.*553_*561dup, XM_011534794.2:c.*552_*561dup, XM_011534794.2:c.*551_*561dup, XM_011534794.2:c.*550_*561dup, XM_011534794.2:c.*549_*561dup, XM_011534794.2:c.*544_*561dup, XM_011534794.2:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534794.1:c.*548_*561del, XM_011534794.1:c.*549_*561del, XM_011534794.1:c.*551_*561del, XM_011534794.1:c.*552_*561del, XM_011534794.1:c.*553_*561del, XM_011534794.1:c.*554_*561del, XM_011534794.1:c.*556_*561del, XM_011534794.1:c.*557_*561del, XM_011534794.1:c.*558_*561del, XM_011534794.1:c.*559_*561del, XM_011534794.1:c.*560_*561del, XM_011534794.1:c.*561del, XM_011534794.1:c.*561dup, XM_011534794.1:c.*560_*561dup, XM_011534794.1:c.*559_*561dup, XM_011534794.1:c.*558_*561dup, XM_011534794.1:c.*557_*561dup, XM_011534794.1:c.*556_*561dup, XM_011534794.1:c.*555_*561dup, XM_011534794.1:c.*554_*561dup, XM_011534794.1:c.*553_*561dup, XM_011534794.1:c.*552_*561dup, XM_011534794.1:c.*551_*561dup, XM_011534794.1:c.*550_*561dup, XM_011534794.1:c.*549_*561dup, XM_011534794.1:c.*544_*561dup, XM_011534794.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024448941.2:c.*548_*561del, XM_024448941.2:c.*549_*561del, XM_024448941.2:c.*551_*561del, XM_024448941.2:c.*552_*561del, XM_024448941.2:c.*553_*561del, XM_024448941.2:c.*554_*561del, XM_024448941.2:c.*556_*561del, XM_024448941.2:c.*557_*561del, XM_024448941.2:c.*558_*561del, XM_024448941.2:c.*559_*561del, XM_024448941.2:c.*560_*561del, XM_024448941.2:c.*561del, XM_024448941.2:c.*561dup, XM_024448941.2:c.*560_*561dup, XM_024448941.2:c.*559_*561dup, XM_024448941.2:c.*558_*561dup, XM_024448941.2:c.*557_*561dup, XM_024448941.2:c.*556_*561dup, XM_024448941.2:c.*555_*561dup, XM_024448941.2:c.*554_*561dup, XM_024448941.2:c.*553_*561dup, XM_024448941.2:c.*552_*561dup, XM_024448941.2:c.*551_*561dup, XM_024448941.2:c.*550_*561dup, XM_024448941.2:c.*549_*561dup, XM_024448941.2:c.*544_*561dup, XM_024448941.2:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024448941.1:c.*548_*561del, XM_024448941.1:c.*549_*561del, XM_024448941.1:c.*551_*561del, XM_024448941.1:c.*552_*561del, XM_024448941.1:c.*553_*561del, XM_024448941.1:c.*554_*561del, XM_024448941.1:c.*556_*561del, XM_024448941.1:c.*557_*561del, XM_024448941.1:c.*558_*561del, XM_024448941.1:c.*559_*561del, XM_024448941.1:c.*560_*561del, XM_024448941.1:c.*561del, XM_024448941.1:c.*561dup, XM_024448941.1:c.*560_*561dup, XM_024448941.1:c.*559_*561dup, XM_024448941.1:c.*558_*561dup, XM_024448941.1:c.*557_*561dup, XM_024448941.1:c.*556_*561dup, XM_024448941.1:c.*555_*561dup, XM_024448941.1:c.*554_*561dup, XM_024448941.1:c.*553_*561dup, XM_024448941.1:c.*552_*561dup, XM_024448941.1:c.*551_*561dup, XM_024448941.1:c.*550_*561dup, XM_024448941.1:c.*549_*561dup, XM_024448941.1:c.*544_*561dup, XM_024448941.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024448940.2:c.*548_*561del, XM_024448940.2:c.*549_*561del, XM_024448940.2:c.*551_*561del, XM_024448940.2:c.*552_*561del, XM_024448940.2:c.*553_*561del, XM_024448940.2:c.*554_*561del, XM_024448940.2:c.*556_*561del, XM_024448940.2:c.*557_*561del, XM_024448940.2:c.*558_*561del, XM_024448940.2:c.*559_*561del, XM_024448940.2:c.*560_*561del, XM_024448940.2:c.*561del, XM_024448940.2:c.*561dup, XM_024448940.2:c.*560_*561dup, XM_024448940.2:c.*559_*561dup, XM_024448940.2:c.*558_*561dup, XM_024448940.2:c.*557_*561dup, XM_024448940.2:c.*556_*561dup, XM_024448940.2:c.*555_*561dup, XM_024448940.2:c.*554_*561dup, XM_024448940.2:c.*553_*561dup, XM_024448940.2:c.*552_*561dup, XM_024448940.2:c.*551_*561dup, XM_024448940.2:c.*550_*561dup, XM_024448940.2:c.*549_*561dup, XM_024448940.2:c.*544_*561dup, XM_024448940.2:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_024448940.1:c.*548_*561del, XM_024448940.1:c.*549_*561del, XM_024448940.1:c.*551_*561del, XM_024448940.1:c.*552_*561del, XM_024448940.1:c.*553_*561del, XM_024448940.1:c.*554_*561del, XM_024448940.1:c.*556_*561del, XM_024448940.1:c.*557_*561del, XM_024448940.1:c.*558_*561del, XM_024448940.1:c.*559_*561del, XM_024448940.1:c.*560_*561del, XM_024448940.1:c.*561del, XM_024448940.1:c.*561dup, XM_024448940.1:c.*560_*561dup, XM_024448940.1:c.*559_*561dup, XM_024448940.1:c.*558_*561dup, XM_024448940.1:c.*557_*561dup, XM_024448940.1:c.*556_*561dup, XM_024448940.1:c.*555_*561dup, XM_024448940.1:c.*554_*561dup, XM_024448940.1:c.*553_*561dup, XM_024448940.1:c.*552_*561dup, XM_024448940.1:c.*551_*561dup, XM_024448940.1:c.*550_*561dup, XM_024448940.1:c.*549_*561dup, XM_024448940.1:c.*544_*561dup, XM_024448940.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047428709.1:c.*548_*561del, XM_047428709.1:c.*549_*561del, XM_047428709.1:c.*551_*561del, XM_047428709.1:c.*552_*561del, XM_047428709.1:c.*553_*561del, XM_047428709.1:c.*554_*561del, XM_047428709.1:c.*556_*561del, XM_047428709.1:c.*557_*561del, XM_047428709.1:c.*558_*561del, XM_047428709.1:c.*559_*561del, XM_047428709.1:c.*560_*561del, XM_047428709.1:c.*561del, XM_047428709.1:c.*561dup, XM_047428709.1:c.*560_*561dup, XM_047428709.1:c.*559_*561dup, XM_047428709.1:c.*558_*561dup, XM_047428709.1:c.*557_*561dup, XM_047428709.1:c.*556_*561dup, XM_047428709.1:c.*555_*561dup, XM_047428709.1:c.*554_*561dup, XM_047428709.1:c.*553_*561dup, XM_047428709.1:c.*552_*561dup, XM_047428709.1:c.*551_*561dup, XM_047428709.1:c.*550_*561dup, XM_047428709.1:c.*549_*561dup, XM_047428709.1:c.*544_*561dup, XM_047428709.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047428705.1:c.*548_*561del, XM_047428705.1:c.*549_*561del, XM_047428705.1:c.*551_*561del, XM_047428705.1:c.*552_*561del, XM_047428705.1:c.*553_*561del, XM_047428705.1:c.*554_*561del, XM_047428705.1:c.*556_*561del, XM_047428705.1:c.*557_*561del, XM_047428705.1:c.*558_*561del, XM_047428705.1:c.*559_*561del, XM_047428705.1:c.*560_*561del, XM_047428705.1:c.*561del, XM_047428705.1:c.*561dup, XM_047428705.1:c.*560_*561dup, XM_047428705.1:c.*559_*561dup, XM_047428705.1:c.*558_*561dup, XM_047428705.1:c.*557_*561dup, XM_047428705.1:c.*556_*561dup, XM_047428705.1:c.*555_*561dup, XM_047428705.1:c.*554_*561dup, XM_047428705.1:c.*553_*561dup, XM_047428705.1:c.*552_*561dup, XM_047428705.1:c.*551_*561dup, XM_047428705.1:c.*550_*561dup, XM_047428705.1:c.*549_*561dup, XM_047428705.1:c.*544_*561dup, XM_047428705.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047428708.1:c.*548_*561del, XM_047428708.1:c.*549_*561del, XM_047428708.1:c.*551_*561del, XM_047428708.1:c.*552_*561del, XM_047428708.1:c.*553_*561del, XM_047428708.1:c.*554_*561del, XM_047428708.1:c.*556_*561del, XM_047428708.1:c.*557_*561del, XM_047428708.1:c.*558_*561del, XM_047428708.1:c.*559_*561del, XM_047428708.1:c.*560_*561del, XM_047428708.1:c.*561del, XM_047428708.1:c.*561dup, XM_047428708.1:c.*560_*561dup, XM_047428708.1:c.*559_*561dup, XM_047428708.1:c.*558_*561dup, XM_047428708.1:c.*557_*561dup, XM_047428708.1:c.*556_*561dup, XM_047428708.1:c.*555_*561dup, XM_047428708.1:c.*554_*561dup, XM_047428708.1:c.*553_*561dup, XM_047428708.1:c.*552_*561dup, XM_047428708.1:c.*551_*561dup, XM_047428708.1:c.*550_*561dup, XM_047428708.1:c.*549_*561dup, XM_047428708.1:c.*544_*561dup, XM_047428708.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047428707.1:c.*548_*561del, XM_047428707.1:c.*549_*561del, XM_047428707.1:c.*551_*561del, XM_047428707.1:c.*552_*561del, XM_047428707.1:c.*553_*561del, XM_047428707.1:c.*554_*561del, XM_047428707.1:c.*556_*561del, XM_047428707.1:c.*557_*561del, XM_047428707.1:c.*558_*561del, XM_047428707.1:c.*559_*561del, XM_047428707.1:c.*560_*561del, XM_047428707.1:c.*561del, XM_047428707.1:c.*561dup, XM_047428707.1:c.*560_*561dup, XM_047428707.1:c.*559_*561dup, XM_047428707.1:c.*558_*561dup, XM_047428707.1:c.*557_*561dup, XM_047428707.1:c.*556_*561dup, XM_047428707.1:c.*555_*561dup, XM_047428707.1:c.*554_*561dup, XM_047428707.1:c.*553_*561dup, XM_047428707.1:c.*552_*561dup, XM_047428707.1:c.*551_*561dup, XM_047428707.1:c.*550_*561dup, XM_047428707.1:c.*549_*561dup, XM_047428707.1:c.*544_*561dup, XM_047428707.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047428706.1:c.*548_*561del, XM_047428706.1:c.*549_*561del, XM_047428706.1:c.*551_*561del, XM_047428706.1:c.*552_*561del, XM_047428706.1:c.*553_*561del, XM_047428706.1:c.*554_*561del, XM_047428706.1:c.*556_*561del, XM_047428706.1:c.*557_*561del, XM_047428706.1:c.*558_*561del, XM_047428706.1:c.*559_*561del, XM_047428706.1:c.*560_*561del, XM_047428706.1:c.*561del, XM_047428706.1:c.*561dup, XM_047428706.1:c.*560_*561dup, XM_047428706.1:c.*559_*561dup, XM_047428706.1:c.*558_*561dup, XM_047428706.1:c.*557_*561dup, XM_047428706.1:c.*556_*561dup, XM_047428706.1:c.*555_*561dup, XM_047428706.1:c.*554_*561dup, XM_047428706.1:c.*553_*561dup, XM_047428706.1:c.*552_*561dup, XM_047428706.1:c.*551_*561dup, XM_047428706.1:c.*550_*561dup, XM_047428706.1:c.*549_*561dup, XM_047428706.1:c.*544_*561dup, XM_047428706.1:c.*561_*562insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149098767411.

rs1490987674 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGCTGAGTCCTTCCCCCTTTATATAAACCTCA>- [Show Flanks]
Chromosome:: 12:132773938 (GRCh38)
12:133350524 (GRCh37)
Canonical SPDI:: NC_000012.12:132773916:TCCCCCTTTATATAAACCTCAGAGGCTGAGTCCTTCCCCCTTTATATAAACCTCA:TCCCCCTTTATATAAACCTCA
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCCCCCTTTATATAAACCTCA=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.132773938_132773971del, NC_000012.11:g.133350524_133350557del, NG_029887.1:g.59891_59924del

Select item 149097876612.

rs1490978766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:132792140 (GRCh38)
12:133368726 (GRCh37)
Canonical SPDI:: NC_000012.12:132792139:A:C
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.132792140A>C, NC_000012.11:g.133368726A>C, NG_029887.1:g.41701T>G

Select item 149096928413.

rs1490969284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132821581 (GRCh38)
12:133398167 (GRCh37)
Canonical SPDI:: NC_000012.12:132821580:T:C
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.132821581T>C, NC_000012.11:g.133398167T>C, NG_029887.1:g.12260A>G

Select item 149096196214.

rs1490961962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132799008 (GRCh38)
12:133375594 (GRCh37)
Canonical SPDI:: NC_000012.12:132799007:G:A
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.132799008G>A, NC_000012.11:g.133375594G>A, NG_029887.1:g.34833C>T

Select item 149093034915.

rs1490930349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132781937 (GRCh38)
12:133358523 (GRCh37)
Canonical SPDI:: NC_000012.12:132781936:A:G
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.132781937A>G, NC_000012.11:g.133358523A>G, NG_029887.1:g.51904T>C

Select item 149088355516.

rs1490883555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132805154 (GRCh38)
12:133381740 (GRCh37)
Canonical SPDI:: NC_000012.12:132805153:A:G
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132805154A>G, NC_000012.11:g.133381740A>G, NG_029887.1:g.28687T>C

Select item 149088059017.

rs1490880590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132772480 (GRCh38)
12:133349066 (GRCh37)
Canonical SPDI:: NC_000012.12:132772479:C:T
Gene:: GOLGA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000063/8 (GnomAD)
HGVS:: NC_000012.12:g.132772480C>T, NC_000012.11:g.133349066C>T, NG_029887.1:g.61361G>A, NM_005895.4:c.*625G>A, NM_005895.3:c.*625G>A, NM_001389685.1:c.*625G>A, NM_001389687.1:c.*625G>A, NM_001389688.1:c.*625G>A, NM_001389683.1:c.*625G>A, NM_001389684.1:c.*625G>A, NM_001389686.1:c.*625G>A, NM_001389689.1:c.*625G>A, XM_005266167.5:c.*625G>A, XM_005266167.4:c.*625G>A, XM_005266167.3:c.*625G>A, XM_005266167.2:c.*625G>A, XM_005266167.1:c.*625G>A, XM_011534794.3:c.*625G>A, XM_011534794.2:c.*625G>A, XM_011534794.1:c.*625G>A, XM_024448941.2:c.*625G>A, XM_024448941.1:c.*625G>A, XM_024448940.2:c.*625G>A, XM_024448940.1:c.*625G>A, XM_047428709.1:c.*625G>A, XM_047428705.1:c.*625G>A, XM_047428708.1:c.*625G>A, XM_047428707.1:c.*625G>A, XM_047428706.1:c.*625G>A

Select item 149076176818.

rs1490761768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132784924 (GRCh38)
12:133361510 (GRCh37)
Canonical SPDI:: NC_000012.12:132784923:T:C
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.132784924T>C, NC_000012.11:g.133361510T>C, NG_029887.1:g.48917A>G

Select item 149074417419.

rs1490744174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:132821870 (GRCh38)
12:133398456 (GRCh37)
Canonical SPDI:: NC_000012.12:132821869:A:C,NC_000012.12:132821869:A:G
Gene:: GOLGA3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.132821870A>C, NC_000012.12:g.132821870A>G, NC_000012.11:g.133398456A>C, NC_000012.11:g.133398456A>G, NG_029887.1:g.11971T>G, NG_029887.1:g.11971T>C

Select item 149070578320.

rs1490705783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:132777155 (GRCh38)
12:133353741 (GRCh37)
Canonical SPDI:: NC_000012.12:132777154:T:G
Gene:: GOLGA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000012.12:g.132777155T>G, NC_000012.11:g.133353741T>G, NG_029887.1:g.56686A>C

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