SNP Links for Gene (Select 1161) - SNP

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Select item 14915714391.

rs1491571439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAC [Show Flanks]
Chromosome:: 5:60933939 (GRCh38)
5:60229767 (GRCh37)
Canonical SPDI:: NC_000005.10:60933939:CACAC:CACACCACAC
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACCACAC=0./0 (ALFA)
CACAC=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.60933940_60933944dup, NC_000005.9:g.60229767_60229771dup, NG_009289.1:g.16135_16139dup

Select item 14915654602.

rs1491565460 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:60944716 (GRCh38)
5:60240543 (GRCh37)
Canonical SPDI:: NC_000005.10:60944714:CAC:C
Gene:: ERCC8 (Varview), NDUFAF2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000005.10:g.60944716_60944717del, NC_000005.9:g.60240543_60240544del, NG_008978.1:g.4588_4589del, NG_009289.1:g.5363_5364del

Select item 14915517543.

rs1491551754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAA [Show Flanks]
Chromosome:: 5:60884475 (GRCh38)
5:60180303 (GRCh37)
Canonical SPDI:: NC_000005.10:60884475:AAA:AAATAAAA
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAATAAAA=0./0 (ALFA)
AAATA=0.00005/3 (GnomAD)
HGVS:: NC_000005.10:g.60884478_60884479insTAAAA, NC_000005.9:g.60180305_60180306insTAAAA, NG_009289.1:g.65601_65603T[4]ATTT[1]

Select item 14914905764.

rs1491490576 has merged into rs35789098 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:60891673 (GRCh38)
5:60187500 (GRCh37)
Canonical SPDI:: NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:60891662:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERCC8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.0001/1 (ALFA)
T=0.2633/158 (NorthernSweden)
T=0.3253/1629 (1000Genomes)
T=0.35/14 (GENOME_DK)
T=0.3679/1418 (ALSPAC)
T=0.3708/1375 (TWINSUK)
HGVS:: NC_000005.10:g.60891673_60891674del, NC_000005.10:g.60891674del, NC_000005.10:g.60891674dup, NC_000005.10:g.60891673_60891674dup, NC_000005.10:g.60891670_60891674dup, NC_000005.10:g.60891663_60891674dup, NC_000005.9:g.60187500_60187501del, NC_000005.9:g.60187501del, NC_000005.9:g.60187501dup, NC_000005.9:g.60187500_60187501dup, NC_000005.9:g.60187497_60187501dup, NC_000005.9:g.60187490_60187501dup, NG_005649.3:g.2099_2100del, NG_005649.3:g.2100del, NG_005649.3:g.2100dup, NG_005649.3:g.2099_2100dup, NG_005649.3:g.2096_2100dup, NG_005649.3:g.2089_2100dup, NG_009289.1:g.58415_58416del, NG_009289.1:g.58416del, NG_009289.1:g.58416dup, NG_009289.1:g.58415_58416dup, NG_009289.1:g.58412_58416dup, NG_009289.1:g.58405_58416dup

Select item 14914306395.

rs1491430639 has merged into rs1231887020 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:60938360 (GRCh38)
5:60234187 (GRCh37)
Canonical SPDI:: NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60938350:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00007/1 (TOMMO)
T=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.60938360_60938372del, NC_000005.10:g.60938363_60938372del, NC_000005.10:g.60938365_60938372del, NC_000005.10:g.60938366_60938372del, NC_000005.10:g.60938367_60938372del, NC_000005.10:g.60938369_60938372del, NC_000005.10:g.60938370_60938372del, NC_000005.10:g.60938372del, NC_000005.10:g.60938372dup, NC_000005.10:g.60938371_60938372dup, NC_000005.10:g.60938370_60938372dup, NC_000005.10:g.60938369_60938372dup, NC_000005.10:g.60938368_60938372dup, NC_000005.10:g.60938366_60938372dup, NC_000005.10:g.60938359_60938372dup, NC_000005.10:g.60938358_60938372dup, NC_000005.10:g.60938352_60938372dup, NC_000005.10:g.60938372_60938373insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60234187_60234199del, NC_000005.9:g.60234190_60234199del, NC_000005.9:g.60234192_60234199del, NC_000005.9:g.60234193_60234199del, NC_000005.9:g.60234194_60234199del, NC_000005.9:g.60234196_60234199del, NC_000005.9:g.60234197_60234199del, NC_000005.9:g.60234199del, NC_000005.9:g.60234199dup, NC_000005.9:g.60234198_60234199dup, NC_000005.9:g.60234197_60234199dup, NC_000005.9:g.60234196_60234199dup, NC_000005.9:g.60234195_60234199dup, NC_000005.9:g.60234193_60234199dup, NC_000005.9:g.60234186_60234199dup, NC_000005.9:g.60234185_60234199dup, NC_000005.9:g.60234179_60234199dup, NC_000005.9:g.60234199_60234200insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009289.1:g.11716_11728del, NG_009289.1:g.11719_11728del, NG_009289.1:g.11721_11728del, NG_009289.1:g.11722_11728del, NG_009289.1:g.11723_11728del, NG_009289.1:g.11725_11728del, NG_009289.1:g.11726_11728del, NG_009289.1:g.11728del, NG_009289.1:g.11728dup, NG_009289.1:g.11727_11728dup, NG_009289.1:g.11726_11728dup, NG_009289.1:g.11725_11728dup, NG_009289.1:g.11724_11728dup, NG_009289.1:g.11722_11728dup, NG_009289.1:g.11715_11728dup, NG_009289.1:g.11714_11728dup, NG_009289.1:g.11708_11728dup, NG_009289.1:g.11728_11729insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914094866.

rs1491409486 has merged into rs70977815 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 5:60933954 (GRCh38)
5:60229781 (GRCh37)
Canonical SPDI:: NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:60933938:ACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
ACACACAC=0.033147/166 (1000Genomes)
ACACAC=0.090189/23872 (TOPMED)
HGVS:: NC_000005.10:g.60933940CA[7], NC_000005.10:g.60933940CA[8], NC_000005.10:g.60933940CA[10], NC_000005.10:g.60933940CA[11], NC_000005.10:g.60933940CA[12], NC_000005.10:g.60933940CA[13], NC_000005.10:g.60933940CA[14], NC_000005.10:g.60933940CA[15], NC_000005.9:g.60229767CA[7], NC_000005.9:g.60229767CA[8], NC_000005.9:g.60229767CA[10], NC_000005.9:g.60229767CA[11], NC_000005.9:g.60229767CA[12], NC_000005.9:g.60229767CA[13], NC_000005.9:g.60229767CA[14], NC_000005.9:g.60229767CA[15], NG_009289.1:g.16123GT[7], NG_009289.1:g.16123GT[8], NG_009289.1:g.16123GT[10], NG_009289.1:g.16123GT[11], NG_009289.1:g.16123GT[12], NG_009289.1:g.16123GT[13], NG_009289.1:g.16123GT[14], NG_009289.1:g.16123GT[15]

Select item 14913034297.

rs1491303429 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 5:60938038 (GRCh38)
5:60233865 (GRCh37)
Canonical SPDI:: NC_000005.10:60938036:ATA:A,NC_000005.10:60938036:ATA:ATATA
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AT=0.00007/1 (GnomAD)
HGVS:: NC_000005.10:g.60938038_60938039del, NC_000005.10:g.60938038_60938039dup, NC_000005.9:g.60233865_60233866del, NC_000005.9:g.60233865_60233866dup, NG_009289.1:g.12041_12042del, NG_009289.1:g.12041_12042dup

Select item 14912869088.

rs1491286908 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:60891663 (GRCh38)
5:60187491 (GRCh37)
Canonical SPDI:: NC_000005.10:60891663::A
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.60891663_60891664insA, NC_000005.9:g.60187490_60187491insA, NG_005649.3:g.2099_2100insT, NG_009289.1:g.58415_58416insT

Select item 14912675479.

rs1491267547 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:60884475 (GRCh38)
5:60180302 (GRCh37)
Canonical SPDI:: NC_000005.10:60884474:CA:
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.60884475_60884476del, NC_000005.9:g.60180302_60180303del, NG_009289.1:g.65603_65604del

Select item 149123695510.

rs1491236955 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149123527711.

rs1491235277 has merged into rs34115919 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 5:60944713 (GRCh38)
5:60240540 (GRCh37)
Canonical SPDI:: NC_000005.10:60944705:CCCCCCCCCC:CCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCCCC
Gene:: ERCC8 (Varview), NDUFAF2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
C=0.3768/1887 (1000Genomes)
HGVS:: NC_000005.10:g.60944713_60944715del, NC_000005.10:g.60944714_60944715del, NC_000005.10:g.60944715del, NC_000005.10:g.60944715dup, NC_000005.10:g.60944714_60944715dup, NC_000005.10:g.60944713_60944715dup, NC_000005.10:g.60944712_60944715dup, NC_000005.10:g.60944711_60944715dup, NC_000005.10:g.60944710_60944715dup, NC_000005.9:g.60240540_60240542del, NC_000005.9:g.60240541_60240542del, NC_000005.9:g.60240542del, NC_000005.9:g.60240542dup, NC_000005.9:g.60240541_60240542dup, NC_000005.9:g.60240540_60240542dup, NC_000005.9:g.60240539_60240542dup, NC_000005.9:g.60240538_60240542dup, NC_000005.9:g.60240537_60240542dup, NG_008978.1:g.4585_4587del, NG_008978.1:g.4586_4587del, NG_008978.1:g.4587del, NG_008978.1:g.4587dup, NG_008978.1:g.4586_4587dup, NG_008978.1:g.4585_4587dup, NG_008978.1:g.4584_4587dup, NG_008978.1:g.4583_4587dup, NG_008978.1:g.4582_4587dup, NG_009289.1:g.5371_5373del, NG_009289.1:g.5372_5373del, NG_009289.1:g.5373del, NG_009289.1:g.5373dup, NG_009289.1:g.5372_5373dup, NG_009289.1:g.5371_5373dup, NG_009289.1:g.5370_5373dup, NG_009289.1:g.5369_5373dup, NG_009289.1:g.5368_5373dup

Select item 149120250512.

rs1491202505 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:60944705 (GRCh38)
5:60240532 (GRCh37)
Canonical SPDI:: NC_000005.10:60944704:AC:
Gene:: ERCC8 (Varview), NDUFAF2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000005.10:g.60944705_60944706del, NC_000005.9:g.60240532_60240533del, NG_008978.1:g.4577_4578del, NG_009289.1:g.5373_5374del

Select item 149120215013.

rs1491202150 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTAC
Chromosome:: no mapping
Canonical SPDI:

Select item 149113720014.

rs1491137200 has merged into rs143139297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:60933220 (GRCh38)
5:60229047 (GRCh37)
Canonical SPDI:: NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60933216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000049/13 (TOPMED)
HGVS:: NC_000005.10:g.60933220_60933236del, NC_000005.10:g.60933221_60933236del, NC_000005.10:g.60933223_60933236del, NC_000005.10:g.60933224_60933236del, NC_000005.10:g.60933226_60933236del, NC_000005.10:g.60933227_60933236del, NC_000005.10:g.60933228_60933236del, NC_000005.10:g.60933229_60933236del, NC_000005.10:g.60933232_60933236del, NC_000005.10:g.60933233_60933236del, NC_000005.10:g.60933234_60933236del, NC_000005.10:g.60933235_60933236del, NC_000005.10:g.60933236del, NC_000005.10:g.60933236dup, NC_000005.10:g.60933235_60933236dup, NC_000005.10:g.60933234_60933236dup, NC_000005.10:g.60933233_60933236dup, NC_000005.10:g.60933217_60933236T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.60933232_60933236dup, NC_000005.10:g.60933231_60933236dup, NC_000005.10:g.60933230_60933236dup, NC_000005.10:g.60933229_60933236dup, NC_000005.10:g.60933228_60933236dup, NC_000005.10:g.60933227_60933236dup, NC_000005.10:g.60933226_60933236dup, NC_000005.10:g.60933225_60933236dup, NC_000005.10:g.60933224_60933236dup, NC_000005.10:g.60933223_60933236dup, NC_000005.10:g.60933222_60933236dup, NC_000005.10:g.60933221_60933236dup, NC_000005.10:g.60933220_60933236dup, NC_000005.10:g.60933219_60933236dup, NC_000005.10:g.60933218_60933236dup, NC_000005.10:g.60933236_60933237insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60933236_60933237insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60229047_60229063del, NC_000005.9:g.60229048_60229063del, NC_000005.9:g.60229050_60229063del, NC_000005.9:g.60229051_60229063del, NC_000005.9:g.60229053_60229063del, NC_000005.9:g.60229054_60229063del, NC_000005.9:g.60229055_60229063del, NC_000005.9:g.60229056_60229063del, NC_000005.9:g.60229059_60229063del, NC_000005.9:g.60229060_60229063del, NC_000005.9:g.60229061_60229063del, NC_000005.9:g.60229062_60229063del, NC_000005.9:g.60229063del, NC_000005.9:g.60229063dup, NC_000005.9:g.60229062_60229063dup, NC_000005.9:g.60229061_60229063dup, NC_000005.9:g.60229060_60229063dup, NC_000005.9:g.60229044_60229063T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.60229059_60229063dup, NC_000005.9:g.60229058_60229063dup, NC_000005.9:g.60229057_60229063dup, NC_000005.9:g.60229056_60229063dup, NC_000005.9:g.60229055_60229063dup, NC_000005.9:g.60229054_60229063dup, NC_000005.9:g.60229053_60229063dup, NC_000005.9:g.60229052_60229063dup, NC_000005.9:g.60229051_60229063dup, NC_000005.9:g.60229050_60229063dup, NC_000005.9:g.60229049_60229063dup, NC_000005.9:g.60229048_60229063dup, NC_000005.9:g.60229047_60229063dup, NC_000005.9:g.60229046_60229063dup, NC_000005.9:g.60229045_60229063dup, NC_000005.9:g.60229063_60229064insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60229063_60229064insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009289.1:g.16846_16862del, NG_009289.1:g.16847_16862del, NG_009289.1:g.16849_16862del, NG_009289.1:g.16850_16862del, NG_009289.1:g.16852_16862del, NG_009289.1:g.16853_16862del, NG_009289.1:g.16854_16862del, NG_009289.1:g.16855_16862del, NG_009289.1:g.16858_16862del, NG_009289.1:g.16859_16862del, NG_009289.1:g.16860_16862del, NG_009289.1:g.16861_16862del, NG_009289.1:g.16862del, NG_009289.1:g.16862dup, NG_009289.1:g.16861_16862dup, NG_009289.1:g.16860_16862dup, NG_009289.1:g.16859_16862dup, NG_009289.1:g.16843_16862A[39]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009289.1:g.16858_16862dup, NG_009289.1:g.16857_16862dup, NG_009289.1:g.16856_16862dup, NG_009289.1:g.16855_16862dup, NG_009289.1:g.16854_16862dup, NG_009289.1:g.16853_16862dup, NG_009289.1:g.16852_16862dup, NG_009289.1:g.16851_16862dup, NG_009289.1:g.16850_16862dup, NG_009289.1:g.16849_16862dup, NG_009289.1:g.16848_16862dup, NG_009289.1:g.16847_16862dup, NG_009289.1:g.16846_16862dup, NG_009289.1:g.16845_16862dup, NG_009289.1:g.16844_16862dup, NG_009289.1:g.16862_16863insAAAAAAAAAAAAAAAAAAAAAA, NG_009289.1:g.16862_16863insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149112284015.

rs1491122840 has merged into rs3031040 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 5:60908590 (GRCh38)
5:60204417 (GRCh37)
Canonical SPDI:: NC_000005.10:60908583:TTTTTTTTTT:TTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:60908583:TTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.60908590_60908593del, NC_000005.10:g.60908591_60908593del, NC_000005.10:g.60908592_60908593del, NC_000005.10:g.60908593del, NC_000005.10:g.60908593dup, NC_000005.10:g.60908592_60908593dup, NC_000005.10:g.60908591_60908593dup, NC_000005.10:g.60908590_60908593dup, NC_000005.10:g.60908589_60908593dup, NC_000005.10:g.60908588_60908593dup, NC_000005.9:g.60204417_60204420del, NC_000005.9:g.60204418_60204420del, NC_000005.9:g.60204419_60204420del, NC_000005.9:g.60204420del, NC_000005.9:g.60204420dup, NC_000005.9:g.60204419_60204420dup, NC_000005.9:g.60204418_60204420dup, NC_000005.9:g.60204417_60204420dup, NC_000005.9:g.60204416_60204420dup, NC_000005.9:g.60204415_60204420dup, NG_009289.1:g.41492_41495del, NG_009289.1:g.41493_41495del, NG_009289.1:g.41494_41495del, NG_009289.1:g.41495del, NG_009289.1:g.41495dup, NG_009289.1:g.41494_41495dup, NG_009289.1:g.41493_41495dup, NG_009289.1:g.41492_41495dup, NG_009289.1:g.41491_41495dup, NG_009289.1:g.41490_41495dup

Select item 149109274216.

rs1491092742 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:60883005 (GRCh38)
5:60178832 (GRCh37)
Canonical SPDI:: NC_000005.10:60883004:AT:
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001027/12 (ALFA)
-=0.000142/2 (TOMMO)
-=0.009188/1239 (GnomAD)
-=0.025/1 (GENOME_DK)
-=0.043689/162 (TWINSUK)
-=0.050856/196 (ALSPAC)
HGVS:: NC_000005.10:g.60883005_60883006del, NC_000005.9:g.60178832_60178833del, NG_009289.1:g.67073_67074del

Select item 149108984417.

rs1491089844 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:60944715 (GRCh38)
5:60240543 (GRCh37)
Canonical SPDI:: NC_000005.10:60944715::G
Gene:: ERCC8 (Varview), NDUFAF2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.60944715_60944716insG, NC_000005.9:g.60240542_60240543insG, NG_008978.1:g.4587_4588insG, NG_009289.1:g.5363_5364insC

Select item 149103999918.

rs1491039999 has merged into rs71606648 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:60884535 (GRCh38)
5:60180362 (GRCh37)
Canonical SPDI:: NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERCC8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4357/2182 (1000Genomes)
HGVS:: NC_000005.10:g.60884535_60884537del, NC_000005.10:g.60884536_60884537del, NC_000005.10:g.60884537del, NC_000005.10:g.60884537dup, NC_000005.10:g.60884536_60884537dup, NC_000005.10:g.60884535_60884537dup, NC_000005.10:g.60884534_60884537dup, NC_000005.10:g.60884533_60884537dup, NC_000005.10:g.60884532_60884537dup, NC_000005.10:g.60884531_60884537dup, NC_000005.10:g.60884530_60884537dup, NC_000005.10:g.60884529_60884537dup, NC_000005.10:g.60884528_60884537dup, NC_000005.10:g.60884527_60884537dup, NC_000005.10:g.60884526_60884537dup, NC_000005.10:g.60884525_60884537dup, NC_000005.10:g.60884524_60884537dup, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180362_60180364del, NC_000005.9:g.60180363_60180364del, NC_000005.9:g.60180364del, NC_000005.9:g.60180364dup, NC_000005.9:g.60180363_60180364dup, NC_000005.9:g.60180362_60180364dup, NC_000005.9:g.60180361_60180364dup, NC_000005.9:g.60180360_60180364dup, NC_000005.9:g.60180359_60180364dup, NC_000005.9:g.60180358_60180364dup, NC_000005.9:g.60180357_60180364dup, NC_000005.9:g.60180356_60180364dup, NC_000005.9:g.60180355_60180364dup, NC_000005.9:g.60180354_60180364dup, NC_000005.9:g.60180353_60180364dup, NC_000005.9:g.60180352_60180364dup, NC_000005.9:g.60180351_60180364dup, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009289.1:g.65553_65555del, NG_009289.1:g.65554_65555del, NG_009289.1:g.65555del, NG_009289.1:g.65555dup, NG_009289.1:g.65554_65555dup, NG_009289.1:g.65553_65555dup, NG_009289.1:g.65552_65555dup, NG_009289.1:g.65551_65555dup, NG_009289.1:g.65550_65555dup, NG_009289.1:g.65549_65555dup, NG_009289.1:g.65548_65555dup, NG_009289.1:g.65547_65555dup, NG_009289.1:g.65546_65555dup, NG_009289.1:g.65545_65555dup, NG_009289.1:g.65544_65555dup, NG_009289.1:g.65543_65555dup, NG_009289.1:g.65542_65555dup, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAA, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAA, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAA, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149100718319.

rs1491007183 has merged into rs55638584 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:60914804 (GRCh38)
5:60210631 (GRCh37)
Canonical SPDI:: NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60914789:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.60914804_60914809del, NC_000005.10:g.60914806_60914809del, NC_000005.10:g.60914807_60914809del, NC_000005.10:g.60914808_60914809del, NC_000005.10:g.60914809del, NC_000005.10:g.60914809dup, NC_000005.10:g.60914808_60914809dup, NC_000005.10:g.60914807_60914809dup, NC_000005.10:g.60914806_60914809dup, NC_000005.10:g.60914801_60914809dup, NC_000005.10:g.60914798_60914809dup, NC_000005.9:g.60210631_60210636del, NC_000005.9:g.60210633_60210636del, NC_000005.9:g.60210634_60210636del, NC_000005.9:g.60210635_60210636del, NC_000005.9:g.60210636del, NC_000005.9:g.60210636dup, NC_000005.9:g.60210635_60210636dup, NC_000005.9:g.60210634_60210636dup, NC_000005.9:g.60210633_60210636dup, NC_000005.9:g.60210628_60210636dup, NC_000005.9:g.60210625_60210636dup, NG_009289.1:g.35284_35289del, NG_009289.1:g.35286_35289del, NG_009289.1:g.35287_35289del, NG_009289.1:g.35288_35289del, NG_009289.1:g.35289del, NG_009289.1:g.35289dup, NG_009289.1:g.35288_35289dup, NG_009289.1:g.35287_35289dup, NG_009289.1:g.35286_35289dup, NG_009289.1:g.35281_35289dup, NG_009289.1:g.35278_35289dup

Select item 149098683920.

rs1490986839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:60934218 (GRCh38)
5:60230045 (GRCh37)
Canonical SPDI:: NC_000005.10:60934217:C:A
Gene:: ERCC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.60934218C>A, NC_000005.9:g.60230045C>A, NG_009289.1:g.15861G>T

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