SNP Links for Gene (Select 2565) - SNP

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Select item 14915708461.

rs1491570846 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 4:46088815 (GRCh38)
4:46090832 (GRCh37)
Canonical SPDI:: NC_000004.12:46088813:TTT:T,NC_000004.12:46088813:TTT:TTTTT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0022/25 (ALFA)
-=0.00272/46 (TOMMO)
-=0.0071/13 (Korea1K)
-=0.055/33 (NorthernSweden)
-=0.05656/218 (ALSPAC)
-=0.06284/233 (TWINSUK)
HGVS:: NC_000004.12:g.46088815_46088816del, NC_000004.12:g.46088815_46088816dup, NC_000004.11:g.46090832_46090833del, NC_000004.11:g.46090832_46090833dup, NG_046964.1:g.40251_40252del, NG_046964.1:g.40251_40252dup

Select item 14915657692.

rs1491565769 has merged into rs1553884495 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 4:46118143 (GRCh38)
4:46120160 (GRCh37)
Canonical SPDI:: NC_000004.12:46118132:TATATATATATATA:TATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:46118132:TATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
TATATATATATA=0.3/12 (GENOME_DK)
HGVS:: NC_000004.12:g.46118133TA[5], NC_000004.12:g.46118133TA[6], NC_000004.12:g.46118133TA[8], NC_000004.12:g.46118133TA[9], NC_000004.12:g.46118133TA[10], NC_000004.12:g.46118133TA[11], NC_000004.12:g.46118133TA[12], NC_000004.12:g.46118133TA[13], NC_000004.12:g.46118133TA[14], NC_000004.12:g.46118133TA[15], NC_000004.12:g.46118133TA[16], NC_000004.12:g.46118133TA[17], NC_000004.12:g.46118133TA[18], NC_000004.12:g.46118133TA[19], NC_000004.12:g.46118133TA[20], NC_000004.12:g.46118133TA[21], NC_000004.12:g.46118133TA[22], NC_000004.12:g.46118133TA[23], NC_000004.11:g.46120150TA[5], NC_000004.11:g.46120150TA[6], NC_000004.11:g.46120150TA[8], NC_000004.11:g.46120150TA[9], NC_000004.11:g.46120150TA[10], NC_000004.11:g.46120150TA[11], NC_000004.11:g.46120150TA[12], NC_000004.11:g.46120150TA[13], NC_000004.11:g.46120150TA[14], NC_000004.11:g.46120150TA[15], NC_000004.11:g.46120150TA[16], NC_000004.11:g.46120150TA[17], NC_000004.11:g.46120150TA[18], NC_000004.11:g.46120150TA[19], NC_000004.11:g.46120150TA[20], NC_000004.11:g.46120150TA[21], NC_000004.11:g.46120150TA[22], NC_000004.11:g.46120150TA[23], NG_046964.1:g.10920TA[5], NG_046964.1:g.10920TA[6], NG_046964.1:g.10920TA[8], NG_046964.1:g.10920TA[9], NG_046964.1:g.10920TA[10], NG_046964.1:g.10920TA[11], NG_046964.1:g.10920TA[12], NG_046964.1:g.10920TA[13], NG_046964.1:g.10920TA[14], NG_046964.1:g.10920TA[15], NG_046964.1:g.10920TA[16], NG_046964.1:g.10920TA[17], NG_046964.1:g.10920TA[18], NG_046964.1:g.10920TA[19], NG_046964.1:g.10920TA[20], NG_046964.1:g.10920TA[21], NG_046964.1:g.10920TA[22], NG_046964.1:g.10920TA[23]

Select item 14915640993.

rs1491564099 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:46056151 (GRCh38)
4:46058168 (GRCh37)
Canonical SPDI:: NC_000004.12:46056150:TA:
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00565/67 (ALFA)
-=0.006/261 (GnomAD)
-=0.0561/1076 (TOMMO)
HGVS:: NC_000004.12:g.46056151_46056152del, NC_000004.11:g.46058168_46058169del, NG_046964.1:g.72914_72915del

Select item 14914775514.

rs1491477551 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:46076362 (GRCh38)
4:46078379 (GRCh37)
Canonical SPDI:: NC_000004.12:46076361:CA:
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.07924/940 (ALFA)
-=0.05272/31 (NorthernSweden)
-=0.05618/939 (TOMMO)
-=0.1184/8518 (GnomAD)
HGVS:: NC_000004.12:g.46076362_46076363del, NC_000004.11:g.46078379_46078380del, NG_046964.1:g.52703_52704del

Select item 14914524275.

rs1491452427 has merged into rs1203391424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 4:46076373 (GRCh38)
4:46078390 (GRCh37)
Canonical SPDI:: NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.46076363AT[5], NC_000004.12:g.46076363AT[6], NC_000004.12:g.46076363AT[7], NC_000004.12:g.46076363AT[8], NC_000004.12:g.46076363AT[9], NC_000004.12:g.46076363AT[10], NC_000004.12:g.46076363AT[11], NC_000004.12:g.46076363AT[12], NC_000004.12:g.46076363AT[13], NC_000004.12:g.46076363AT[14], NC_000004.12:g.46076363AT[15], NC_000004.12:g.46076363AT[16], NC_000004.12:g.46076363AT[17], NC_000004.12:g.46076363AT[18], NC_000004.12:g.46076363AT[19], NC_000004.12:g.46076363AT[20], NC_000004.12:g.46076363AT[22], NC_000004.12:g.46076363AT[23], NC_000004.12:g.46076363AT[24], NC_000004.12:g.46076363AT[25], NC_000004.12:g.46076363AT[26], NC_000004.12:g.46076363AT[27], NC_000004.11:g.46078380AT[5], NC_000004.11:g.46078380AT[6], NC_000004.11:g.46078380AT[7], NC_000004.11:g.46078380AT[8], NC_000004.11:g.46078380AT[9], NC_000004.11:g.46078380AT[10], NC_000004.11:g.46078380AT[11], NC_000004.11:g.46078380AT[12], NC_000004.11:g.46078380AT[13], NC_000004.11:g.46078380AT[14], NC_000004.11:g.46078380AT[15], NC_000004.11:g.46078380AT[16], NC_000004.11:g.46078380AT[17], NC_000004.11:g.46078380AT[18], NC_000004.11:g.46078380AT[19], NC_000004.11:g.46078380AT[20], NC_000004.11:g.46078380AT[22], NC_000004.11:g.46078380AT[23], NC_000004.11:g.46078380AT[24], NC_000004.11:g.46078380AT[25], NC_000004.11:g.46078380AT[26], NC_000004.11:g.46078380AT[27], NG_046964.1:g.52662AT[5], NG_046964.1:g.52662AT[6], NG_046964.1:g.52662AT[7], NG_046964.1:g.52662AT[8], NG_046964.1:g.52662AT[9], NG_046964.1:g.52662AT[10], NG_046964.1:g.52662AT[11], NG_046964.1:g.52662AT[12], NG_046964.1:g.52662AT[13], NG_046964.1:g.52662AT[14], NG_046964.1:g.52662AT[15], NG_046964.1:g.52662AT[16], NG_046964.1:g.52662AT[17], NG_046964.1:g.52662AT[18], NG_046964.1:g.52662AT[19], NG_046964.1:g.52662AT[20], NG_046964.1:g.52662AT[22], NG_046964.1:g.52662AT[23], NG_046964.1:g.52662AT[24], NG_046964.1:g.52662AT[25], NG_046964.1:g.52662AT[26], NG_046964.1:g.52662AT[27]

Select item 14914444226.

rs1491444422 has merged into rs1203391424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 4:46076373 (GRCh38)
4:46078390 (GRCh37)
Canonical SPDI:: NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:46076362:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.46076363AT[5], NC_000004.12:g.46076363AT[6], NC_000004.12:g.46076363AT[7], NC_000004.12:g.46076363AT[8], NC_000004.12:g.46076363AT[9], NC_000004.12:g.46076363AT[10], NC_000004.12:g.46076363AT[11], NC_000004.12:g.46076363AT[12], NC_000004.12:g.46076363AT[13], NC_000004.12:g.46076363AT[14], NC_000004.12:g.46076363AT[15], NC_000004.12:g.46076363AT[16], NC_000004.12:g.46076363AT[17], NC_000004.12:g.46076363AT[18], NC_000004.12:g.46076363AT[19], NC_000004.12:g.46076363AT[20], NC_000004.12:g.46076363AT[22], NC_000004.12:g.46076363AT[23], NC_000004.12:g.46076363AT[24], NC_000004.12:g.46076363AT[25], NC_000004.12:g.46076363AT[26], NC_000004.12:g.46076363AT[27], NC_000004.11:g.46078380AT[5], NC_000004.11:g.46078380AT[6], NC_000004.11:g.46078380AT[7], NC_000004.11:g.46078380AT[8], NC_000004.11:g.46078380AT[9], NC_000004.11:g.46078380AT[10], NC_000004.11:g.46078380AT[11], NC_000004.11:g.46078380AT[12], NC_000004.11:g.46078380AT[13], NC_000004.11:g.46078380AT[14], NC_000004.11:g.46078380AT[15], NC_000004.11:g.46078380AT[16], NC_000004.11:g.46078380AT[17], NC_000004.11:g.46078380AT[18], NC_000004.11:g.46078380AT[19], NC_000004.11:g.46078380AT[20], NC_000004.11:g.46078380AT[22], NC_000004.11:g.46078380AT[23], NC_000004.11:g.46078380AT[24], NC_000004.11:g.46078380AT[25], NC_000004.11:g.46078380AT[26], NC_000004.11:g.46078380AT[27], NG_046964.1:g.52662AT[5], NG_046964.1:g.52662AT[6], NG_046964.1:g.52662AT[7], NG_046964.1:g.52662AT[8], NG_046964.1:g.52662AT[9], NG_046964.1:g.52662AT[10], NG_046964.1:g.52662AT[11], NG_046964.1:g.52662AT[12], NG_046964.1:g.52662AT[13], NG_046964.1:g.52662AT[14], NG_046964.1:g.52662AT[15], NG_046964.1:g.52662AT[16], NG_046964.1:g.52662AT[17], NG_046964.1:g.52662AT[18], NG_046964.1:g.52662AT[19], NG_046964.1:g.52662AT[20], NG_046964.1:g.52662AT[22], NG_046964.1:g.52662AT[23], NG_046964.1:g.52662AT[24], NG_046964.1:g.52662AT[25], NG_046964.1:g.52662AT[26], NG_046964.1:g.52662AT[27]

Select item 14914390557.

rs1491439055 has merged into rs1182116080 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:46056164 (GRCh38)
4:46058181 (GRCh37)
Canonical SPDI:: NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056151:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.46056164_46056180del, NC_000004.12:g.46056167_46056180del, NC_000004.12:g.46056168_46056180del, NC_000004.12:g.46056169_46056180del, NC_000004.12:g.46056170_46056180del, NC_000004.12:g.46056171_46056180del, NC_000004.12:g.46056172_46056180del, NC_000004.12:g.46056173_46056180del, NC_000004.12:g.46056174_46056180del, NC_000004.12:g.46056175_46056180del, NC_000004.12:g.46056176_46056180del, NC_000004.12:g.46056177_46056180del, NC_000004.12:g.46056178_46056180del, NC_000004.12:g.46056179_46056180del, NC_000004.12:g.46056180del, NC_000004.12:g.46056180dup, NC_000004.12:g.46056179_46056180dup, NC_000004.12:g.46056178_46056180dup, NC_000004.12:g.46056177_46056180dup, NC_000004.12:g.46056176_46056180dup, NC_000004.12:g.46056175_46056180dup, NC_000004.12:g.46056174_46056180dup, NC_000004.12:g.46056173_46056180dup, NC_000004.12:g.46056172_46056180dup, NC_000004.12:g.46056171_46056180dup, NC_000004.12:g.46056170_46056180dup, NC_000004.12:g.46056169_46056180dup, NC_000004.12:g.46056168_46056180dup, NC_000004.12:g.46056167_46056180dup, NC_000004.12:g.46056166_46056180dup, NC_000004.12:g.46056165_46056180dup, NC_000004.12:g.46056164_46056180dup, NC_000004.12:g.46056163_46056180dup, NC_000004.12:g.46056162_46056180dup, NC_000004.12:g.46056161_46056180dup, NC_000004.12:g.46056159_46056180dup, NC_000004.12:g.46056158_46056180dup, NC_000004.12:g.46056157_46056180dup, NC_000004.12:g.46056156_46056180dup, NC_000004.12:g.46056155_46056180dup, NC_000004.12:g.46056153_46056180dup, NC_000004.12:g.46056152_46056180dup, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056180_46056181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056152_46056180A[38]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.46056152_46056180A[37]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.46056152_46056180A[34]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.46058181_46058197del, NC_000004.11:g.46058184_46058197del, NC_000004.11:g.46058185_46058197del, NC_000004.11:g.46058186_46058197del, NC_000004.11:g.46058187_46058197del, NC_000004.11:g.46058188_46058197del, NC_000004.11:g.46058189_46058197del, NC_000004.11:g.46058190_46058197del, NC_000004.11:g.46058191_46058197del, NC_000004.11:g.46058192_46058197del, NC_000004.11:g.46058193_46058197del, NC_000004.11:g.46058194_46058197del, NC_000004.11:g.46058195_46058197del, NC_000004.11:g.46058196_46058197del, NC_000004.11:g.46058197del, NC_000004.11:g.46058197dup, NC_000004.11:g.46058196_46058197dup, NC_000004.11:g.46058195_46058197dup, NC_000004.11:g.46058194_46058197dup, NC_000004.11:g.46058193_46058197dup, NC_000004.11:g.46058192_46058197dup, NC_000004.11:g.46058191_46058197dup, NC_000004.11:g.46058190_46058197dup, NC_000004.11:g.46058189_46058197dup, NC_000004.11:g.46058188_46058197dup, NC_000004.11:g.46058187_46058197dup, NC_000004.11:g.46058186_46058197dup, NC_000004.11:g.46058185_46058197dup, NC_000004.11:g.46058184_46058197dup, NC_000004.11:g.46058183_46058197dup, NC_000004.11:g.46058182_46058197dup, NC_000004.11:g.46058181_46058197dup, NC_000004.11:g.46058180_46058197dup, NC_000004.11:g.46058179_46058197dup, NC_000004.11:g.46058178_46058197dup, NC_000004.11:g.46058176_46058197dup, NC_000004.11:g.46058175_46058197dup, NC_000004.11:g.46058174_46058197dup, NC_000004.11:g.46058173_46058197dup, NC_000004.11:g.46058172_46058197dup, NC_000004.11:g.46058170_46058197dup, NC_000004.11:g.46058169_46058197dup, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058197_46058198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058169_46058197A[38]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.46058169_46058197A[37]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.46058169_46058197A[34]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_046964.1:g.72898_72914del, NG_046964.1:g.72901_72914del, NG_046964.1:g.72902_72914del, NG_046964.1:g.72903_72914del, NG_046964.1:g.72904_72914del, NG_046964.1:g.72905_72914del, NG_046964.1:g.72906_72914del, NG_046964.1:g.72907_72914del, NG_046964.1:g.72908_72914del, NG_046964.1:g.72909_72914del, NG_046964.1:g.72910_72914del, NG_046964.1:g.72911_72914del, NG_046964.1:g.72912_72914del, NG_046964.1:g.72913_72914del, NG_046964.1:g.72914del, NG_046964.1:g.72914dup, NG_046964.1:g.72913_72914dup, NG_046964.1:g.72912_72914dup, NG_046964.1:g.72911_72914dup, NG_046964.1:g.72910_72914dup, NG_046964.1:g.72909_72914dup, NG_046964.1:g.72908_72914dup, NG_046964.1:g.72907_72914dup, NG_046964.1:g.72906_72914dup, NG_046964.1:g.72905_72914dup, NG_046964.1:g.72904_72914dup, NG_046964.1:g.72903_72914dup, NG_046964.1:g.72902_72914dup, NG_046964.1:g.72901_72914dup, NG_046964.1:g.72900_72914dup, NG_046964.1:g.72899_72914dup, NG_046964.1:g.72898_72914dup, NG_046964.1:g.72897_72914dup, NG_046964.1:g.72896_72914dup, NG_046964.1:g.72895_72914dup, NG_046964.1:g.72893_72914dup, NG_046964.1:g.72892_72914dup, NG_046964.1:g.72891_72914dup, NG_046964.1:g.72890_72914dup, NG_046964.1:g.72889_72914dup, NG_046964.1:g.72887_72914dup, NG_046964.1:g.72886_72914dup, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72914_72915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72886_72914T[59]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046964.1:g.72886_72914T[36]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046964.1:g.72886_72914T[59]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914300058.

rs1491430005 has merged into rs34956057 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:46119113 (GRCh38)
4:46121130 (GRCh37)
Canonical SPDI:: NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:46119095:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.05/2 (GENOME_DK)
TG=0.09704/486 (1000Genomes)
HGVS:: NC_000004.12:g.46119097GT[8], NC_000004.12:g.46119097GT[9], NC_000004.12:g.46119097GT[11], NC_000004.12:g.46119097GT[12], NC_000004.12:g.46119097GT[13], NC_000004.12:g.46119097GT[14], NC_000004.11:g.46121114GT[8], NC_000004.11:g.46121114GT[9], NC_000004.11:g.46121114GT[11], NC_000004.11:g.46121114GT[12], NC_000004.11:g.46121114GT[13], NC_000004.11:g.46121114GT[14], NG_046964.1:g.9951CA[8], NG_046964.1:g.9951CA[9], NG_046964.1:g.9951CA[11], NG_046964.1:g.9951CA[12], NG_046964.1:g.9951CA[13], NG_046964.1:g.9951CA[14]

Select item 14914080679.

rs1491408067 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:46088804 (GRCh38)
4:46090822 (GRCh37)
Canonical SPDI:: NC_000004.12:46088804::G
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000248/4 (TOMMO)
G=0.000335/45 (GnomAD)
HGVS:: NC_000004.12:g.46088804_46088805insG, NC_000004.11:g.46090821_46090822insG, NG_046964.1:g.40261_40262insC

Select item 149140703310.

rs1491407033 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA [Show Flanks]
Chromosome:: 4:46056150 (GRCh38)
4:46058168 (GRCh37)
Canonical SPDI:: NC_000004.12:46056150::A,NC_000004.12:46056150::AA,NC_000004.12:46056150::AAA,NC_000004.12:46056150::AAAA,NC_000004.12:46056150::AAAAA,NC_000004.12:46056150::AAAAAA,NC_000004.12:46056150::AAAAAAA,NC_000004.12:46056150::AAAAAAAA,NC_000004.12:46056150::AAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:46056150::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000004.12:g.46056150_46056151insA, NC_000004.12:g.46056150_46056151insAA, NC_000004.12:g.46056150_46056151insAAA, NC_000004.12:g.46056150_46056151insAAAA, NC_000004.12:g.46056150_46056151insAAAAA, NC_000004.12:g.46056150_46056151insAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.46056150_46056151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA, NC_000004.11:g.46058167_46058168insA, NC_000004.11:g.46058167_46058168insAA, NC_000004.11:g.46058167_46058168insAAA, NC_000004.11:g.46058167_46058168insAAAA, NC_000004.11:g.46058167_46058168insAAAAA, NC_000004.11:g.46058167_46058168insAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.46058167_46058168insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA, NG_046964.1:g.72915_72916insT, NG_046964.1:g.72915_72916insTT, NG_046964.1:g.72915_72916insTTT, NG_046964.1:g.72915_72916insTTTT, NG_046964.1:g.72915_72916insTTTTT, NG_046964.1:g.72915_72916insTTTTTT, NG_046964.1:g.72915_72916insTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046964.1:g.72915_72916insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149135106411.

rs1491351064 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATATA [Show Flanks]
Chromosome:: 4:46118133 (GRCh38)
4:46120151 (GRCh37)
Canonical SPDI:: NC_000004.12:46118133:ATATATATATA:ATATATATATACATATATATATA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: ATATATATATAC=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.46118134_46118144AT[5]ACATATATATATA[1], NC_000004.11:g.46120151_46120161AT[5]ACATATATATATA[1], NG_046964.1:g.10922_10932TA[5]TGTATATATATAT[1]

Select item 149133833612.

rs1491338336 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 4:46118121 (GRCh38)
4:46120138 (GRCh37)
Canonical SPDI:: NC_000004.12:46118120:CG:
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0002/1 (1000Genomes)
-=0.0011/2 (Korea1K)
HGVS:: NC_000004.12:g.46118121_46118122del, NC_000004.11:g.46120138_46120139del, NG_046964.1:g.10944_10945del

Select item 149132144513.

rs1491321445 has merged into rs1366124447 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:46088801 (GRCh38)
4:46090818 (GRCh37)
Canonical SPDI:: NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGT,NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:46088791:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00007/1 (TOMMO)
HGVS:: NC_000004.12:g.46088793GT[4], NC_000004.12:g.46088793GT[5], NC_000004.12:g.46088793GT[7], NC_000004.12:g.46088793GT[8], NC_000004.12:g.46088793GT[9], NC_000004.12:g.46088793GT[10], NC_000004.11:g.46090810GT[4], NC_000004.11:g.46090810GT[5], NC_000004.11:g.46090810GT[7], NC_000004.11:g.46090810GT[8], NC_000004.11:g.46090810GT[9], NC_000004.11:g.46090810GT[10], NG_046964.1:g.40263CA[4], NG_046964.1:g.40263CA[5], NG_046964.1:g.40263CA[7], NG_046964.1:g.40263CA[8], NG_046964.1:g.40263CA[9], NG_046964.1:g.40263CA[10]

Select item 149132109214.

rs1491321092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 4:46076363 (GRCh38)
4:46078381 (GRCh37)
Canonical SPDI:: NC_000004.12:46076363:T:TTT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
TT=0.0004/14 (GnomAD)
HGVS:: NC_000004.12:g.46076364_46076365insTT, NC_000004.11:g.46078381_46078382insTT, NG_046964.1:g.52702_52703insAA

Select item 149126104215.

rs1491261042 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:46123100 (GRCh38)
4:46125118 (GRCh37)
Canonical SPDI:: NC_000004.12:46123100::C
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000214/24 (GnomAD)
HGVS:: NC_000004.12:g.46123100_46123101insC, NC_000004.11:g.46125117_46125118insC, NG_046964.1:g.5965_5966insG

Select item 149124098516.

rs1491240985 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGTA [Show Flanks]
Chromosome:: 4:46117736 (GRCh38)
4:46119754 (GRCh37)
Canonical SPDI:: NC_000004.12:46117736:TA:TACATGTA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TACATGTA=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.46117738_46117739insCATGTA, NC_000004.11:g.46119755_46119756insCATGTA, NG_046964.1:g.11329_11330insCATGTA

Select item 149120253417.

rs1491202534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:46117739 (GRCh38)
4:46119756 (GRCh37)
Canonical SPDI:: NC_000004.12:46117735:ATATA:ATA
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.46117737TA[1], NC_000004.11:g.46119754TA[1], NG_046964.1:g.11327AT[1]

Select item 149119430918.

rs1491194309 has merged into rs1489197083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 4:46088805 (GRCh38)
4:46090822 (GRCh37)
Canonical SPDI:: NC_000004.12:46088803:TTT:T,NC_000004.12:46088803:TTT:TTTTT
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.46088805_46088806del, NC_000004.12:g.46088805_46088806dup, NC_000004.11:g.46090822_46090823del, NC_000004.11:g.46090822_46090823dup, NG_046964.1:g.40261_40262del, NG_046964.1:g.40261_40262dup

Select item 149118815219.

rs1491188152 has merged into rs1553882185 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC,CCCCCC [Show Flanks]
Chromosome:: 4:46088768 (GRCh38)
4:46090785 (GRCh37)
Canonical SPDI:: NC_000004.12:46088765:CCCC:CC,NC_000004.12:46088765:CCCC:CCCCCC,NC_000004.12:46088765:CCCC:CCCCCCCC
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
CC=0.000776/13 (TOMMO)
-=0.001638/3 (Korea1K)
HGVS:: NC_000004.12:g.46088768_46088769del, NC_000004.12:g.46088768_46088769dup, NC_000004.12:g.46088766_46088769dup, NC_000004.11:g.46090785_46090786del, NC_000004.11:g.46090785_46090786dup, NC_000004.11:g.46090783_46090786dup, NG_046964.1:g.40299_40300del, NG_046964.1:g.40299_40300dup, NG_046964.1:g.40297_40300dup

Select item 149114866020.

rs1491148660 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:46123101 (GRCh38)
4:46125118 (GRCh37)
Canonical SPDI:: NC_000004.12:46123099:AAA:A
Gene:: GABRG1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.46123101_46123102del, NC_000004.11:g.46125118_46125119del, NG_046964.1:g.5965_5966del

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