SNP Links for Gene (Select 79092) - SNP

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Select item 14915091971.

rs1491509197 has merged into rs72343313 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCGCGCGCG>-,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 17:80173329 (GRCh38)
17:78147128 (GRCh37)
Canonical SPDI:: NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCGCGCGCGCGCG,NC_000017.11:80173324:CGCGCGCGCGCGCGCGCG:CGCGCGCGCGCGCGCGCGCGCGCG
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCG=0./0 (ALFA)
HGVS:: NC_000017.11:g.80173325CG[2], NC_000017.11:g.80173325CG[5], NC_000017.11:g.80173325CG[6], NC_000017.11:g.80173325CG[7], NC_000017.11:g.80173325CG[8], NC_000017.11:g.80173325CG[10], NC_000017.11:g.80173325CG[11], NC_000017.11:g.80173325CG[12], NC_000017.10:g.78147124CG[2], NC_000017.10:g.78147124CG[5], NC_000017.10:g.78147124CG[6], NC_000017.10:g.78147124CG[7], NC_000017.10:g.78147124CG[8], NC_000017.10:g.78147124CG[10], NC_000017.10:g.78147124CG[11], NC_000017.10:g.78147124CG[12], NG_032778.1:g.8334CG[2], NG_032778.1:g.8334CG[5], NG_032778.1:g.8334CG[6], NG_032778.1:g.8334CG[7], NG_032778.1:g.8334CG[8], NG_032778.1:g.8334CG[10], NG_032778.1:g.8334CG[11], NG_032778.1:g.8334CG[12], NW_025791802.1:g.198031CG[2], NW_025791802.1:g.198031CG[5], NW_025791802.1:g.198031CG[6], NW_025791802.1:g.198031CG[7], NW_025791802.1:g.198031CG[8], NW_025791802.1:g.198031CG[10], NW_025791802.1:g.198031CG[11], NW_025791802.1:g.198031CG[12]

Select item 14913532692.

rs1491353269 has merged into rs11290027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:80176448 (GRCh38)
17:78150247 (GRCh37)
Canonical SPDI:: NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80176439:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.4818/2413 (1000Genomes)
HGVS:: NC_000017.11:g.80176448_80176460del, NC_000017.11:g.80176450_80176460del, NC_000017.11:g.80176453_80176460del, NC_000017.11:g.80176455_80176460del, NC_000017.11:g.80176456_80176460del, NC_000017.11:g.80176457_80176460del, NC_000017.11:g.80176458_80176460del, NC_000017.11:g.80176459_80176460del, NC_000017.11:g.80176460del, NC_000017.11:g.80176460dup, NC_000017.11:g.80176459_80176460dup, NC_000017.11:g.80176458_80176460dup, NC_000017.11:g.80176457_80176460dup, NC_000017.11:g.80176456_80176460dup, NC_000017.11:g.80176455_80176460dup, NC_000017.10:g.78150247_78150259del, NC_000017.10:g.78150249_78150259del, NC_000017.10:g.78150252_78150259del, NC_000017.10:g.78150254_78150259del, NC_000017.10:g.78150255_78150259del, NC_000017.10:g.78150256_78150259del, NC_000017.10:g.78150257_78150259del, NC_000017.10:g.78150258_78150259del, NC_000017.10:g.78150259del, NC_000017.10:g.78150259dup, NC_000017.10:g.78150258_78150259dup, NC_000017.10:g.78150257_78150259dup, NC_000017.10:g.78150256_78150259dup, NC_000017.10:g.78150255_78150259dup, NC_000017.10:g.78150254_78150259dup, NG_032778.1:g.11457_11469del, NG_032778.1:g.11459_11469del, NG_032778.1:g.11462_11469del, NG_032778.1:g.11464_11469del, NG_032778.1:g.11465_11469del, NG_032778.1:g.11466_11469del, NG_032778.1:g.11467_11469del, NG_032778.1:g.11468_11469del, NG_032778.1:g.11469del, NG_032778.1:g.11469dup, NG_032778.1:g.11468_11469dup, NG_032778.1:g.11467_11469dup, NG_032778.1:g.11466_11469dup, NG_032778.1:g.11465_11469dup, NG_032778.1:g.11464_11469dup, NW_025791802.1:g.201154_201166del, NW_025791802.1:g.201156_201166del, NW_025791802.1:g.201159_201166del, NW_025791802.1:g.201161_201166del, NW_025791802.1:g.201162_201166del, NW_025791802.1:g.201163_201166del, NW_025791802.1:g.201164_201166del, NW_025791802.1:g.201165_201166del, NW_025791802.1:g.201166del, NW_025791802.1:g.201166dup, NW_025791802.1:g.201165_201166dup, NW_025791802.1:g.201164_201166dup, NW_025791802.1:g.201163_201166dup, NW_025791802.1:g.201162_201166dup, NW_025791802.1:g.201161_201166dup

Select item 14911086913.

rs1491108691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 17:80173325 (GRCh38)
17:78147125 (GRCh37)
Canonical SPDI:: NC_000017.11:80173325:G:GTG
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000017.11:g.80173326_80173327insTG, NC_000017.10:g.78147125_78147126insTG, NG_032778.1:g.8335_8336insTG, NW_025791802.1:g.198032_198033insTG

Select item 14910565864.

rs1491056586 has merged into rs373332962 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:80200242 (GRCh38)
17:78174041 (GRCh37)
Canonical SPDI:: NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80200229:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.80200242_80200254del, NC_000017.11:g.80200244_80200254del, NC_000017.11:g.80200245_80200254del, NC_000017.11:g.80200246_80200254del, NC_000017.11:g.80200247_80200254del, NC_000017.11:g.80200248_80200254del, NC_000017.11:g.80200249_80200254del, NC_000017.11:g.80200250_80200254del, NC_000017.11:g.80200251_80200254del, NC_000017.11:g.80200252_80200254del, NC_000017.11:g.80200253_80200254del, NC_000017.11:g.80200254del, NC_000017.11:g.80200254dup, NC_000017.11:g.80200253_80200254dup, NC_000017.11:g.80200252_80200254dup, NC_000017.11:g.80200251_80200254dup, NC_000017.11:g.80200250_80200254dup, NC_000017.11:g.80200249_80200254dup, NC_000017.11:g.80200248_80200254dup, NC_000017.11:g.80200247_80200254dup, NC_000017.11:g.80200246_80200254dup, NC_000017.11:g.80200245_80200254dup, NC_000017.11:g.80200231_80200254dup, NC_000017.11:g.80200254_80200255insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80200254_80200255insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80200254_80200255insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80200254_80200255insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78174041_78174053del, NC_000017.10:g.78174043_78174053del, NC_000017.10:g.78174044_78174053del, NC_000017.10:g.78174045_78174053del, NC_000017.10:g.78174046_78174053del, NC_000017.10:g.78174047_78174053del, NC_000017.10:g.78174048_78174053del, NC_000017.10:g.78174049_78174053del, NC_000017.10:g.78174050_78174053del, NC_000017.10:g.78174051_78174053del, NC_000017.10:g.78174052_78174053del, NC_000017.10:g.78174053del, NC_000017.10:g.78174053dup, NC_000017.10:g.78174052_78174053dup, NC_000017.10:g.78174051_78174053dup, NC_000017.10:g.78174050_78174053dup, NC_000017.10:g.78174049_78174053dup, NC_000017.10:g.78174048_78174053dup, NC_000017.10:g.78174047_78174053dup, NC_000017.10:g.78174046_78174053dup, NC_000017.10:g.78174045_78174053dup, NC_000017.10:g.78174044_78174053dup, NC_000017.10:g.78174030_78174053dup, NC_000017.10:g.78174053_78174054insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78174053_78174054insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78174053_78174054insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78174053_78174054insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.35251_35263del, NG_032778.1:g.35253_35263del, NG_032778.1:g.35254_35263del, NG_032778.1:g.35255_35263del, NG_032778.1:g.35256_35263del, NG_032778.1:g.35257_35263del, NG_032778.1:g.35258_35263del, NG_032778.1:g.35259_35263del, NG_032778.1:g.35260_35263del, NG_032778.1:g.35261_35263del, NG_032778.1:g.35262_35263del, NG_032778.1:g.35263del, NG_032778.1:g.35263dup, NG_032778.1:g.35262_35263dup, NG_032778.1:g.35261_35263dup, NG_032778.1:g.35260_35263dup, NG_032778.1:g.35259_35263dup, NG_032778.1:g.35258_35263dup, NG_032778.1:g.35257_35263dup, NG_032778.1:g.35256_35263dup, NG_032778.1:g.35255_35263dup, NG_032778.1:g.35254_35263dup, NG_032778.1:g.35240_35263dup, NG_032778.1:g.35263_35264insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.35263_35264insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.35263_35264insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.35263_35264insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.224948_224960del, NW_025791802.1:g.224950_224960del, NW_025791802.1:g.224951_224960del, NW_025791802.1:g.224952_224960del, NW_025791802.1:g.224953_224960del, NW_025791802.1:g.224954_224960del, NW_025791802.1:g.224955_224960del, NW_025791802.1:g.224956_224960del, NW_025791802.1:g.224957_224960del, NW_025791802.1:g.224958_224960del, NW_025791802.1:g.224959_224960del, NW_025791802.1:g.224960del, NW_025791802.1:g.224960dup, NW_025791802.1:g.224959_224960dup, NW_025791802.1:g.224958_224960dup, NW_025791802.1:g.224957_224960dup, NW_025791802.1:g.224956_224960dup, NW_025791802.1:g.224955_224960dup, NW_025791802.1:g.224954_224960dup, NW_025791802.1:g.224953_224960dup, NW_025791802.1:g.224952_224960dup, NW_025791802.1:g.224951_224960dup, NW_025791802.1:g.224937_224960dup, NW_025791802.1:g.224960_224961insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.224960_224961insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.224960_224961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.224960_224961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909600635.

rs1490960063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:80179544 (GRCh38)
17:78153343 (GRCh37)
Canonical SPDI:: NC_000017.11:80179543:G:T
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80179544G>T, NC_000017.10:g.78153343G>T, NG_032778.1:g.14553G>T, NW_025791802.1:g.204250G>T

Select item 14908338656.

rs1490833865 has merged into rs55912754 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:80172883 (GRCh38)
17:78146682 (GRCh37)
Canonical SPDI:: NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80172872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CARD14 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.80172883_80172898del, NC_000017.11:g.80172884_80172898del, NC_000017.11:g.80172885_80172898del, NC_000017.11:g.80172887_80172898del, NC_000017.11:g.80172888_80172898del, NC_000017.11:g.80172889_80172898del, NC_000017.11:g.80172890_80172898del, NC_000017.11:g.80172891_80172898del, NC_000017.11:g.80172892_80172898del, NC_000017.11:g.80172893_80172898del, NC_000017.11:g.80172894_80172898del, NC_000017.11:g.80172895_80172898del, NC_000017.11:g.80172896_80172898del, NC_000017.11:g.80172897_80172898del, NC_000017.11:g.80172898del, NC_000017.11:g.80172898dup, NC_000017.11:g.80172897_80172898dup, NC_000017.11:g.80172896_80172898dup, NC_000017.11:g.80172895_80172898dup, NC_000017.11:g.80172894_80172898dup, NC_000017.11:g.80172893_80172898dup, NC_000017.11:g.80172892_80172898dup, NC_000017.11:g.80172891_80172898dup, NC_000017.11:g.80172890_80172898dup, NC_000017.11:g.80172889_80172898dup, NC_000017.11:g.80172888_80172898dup, NC_000017.11:g.80172887_80172898dup, NC_000017.11:g.80172886_80172898dup, NC_000017.11:g.80172885_80172898dup, NC_000017.11:g.80172884_80172898dup, NC_000017.11:g.80172873_80172898T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.80172883_80172898dup, NC_000017.11:g.80172882_80172898dup, NC_000017.11:g.80172881_80172898dup, NC_000017.11:g.80172880_80172898dup, NC_000017.11:g.80172879_80172898dup, NC_000017.11:g.80172878_80172898dup, NC_000017.11:g.80172877_80172898dup, NC_000017.11:g.80172876_80172898dup, NC_000017.11:g.80172875_80172898dup, NC_000017.11:g.80172874_80172898dup, NC_000017.11:g.80172873_80172898dup, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.80172898_80172899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146682_78146697del, NC_000017.10:g.78146683_78146697del, NC_000017.10:g.78146684_78146697del, NC_000017.10:g.78146686_78146697del, NC_000017.10:g.78146687_78146697del, NC_000017.10:g.78146688_78146697del, NC_000017.10:g.78146689_78146697del, NC_000017.10:g.78146690_78146697del, NC_000017.10:g.78146691_78146697del, NC_000017.10:g.78146692_78146697del, NC_000017.10:g.78146693_78146697del, NC_000017.10:g.78146694_78146697del, NC_000017.10:g.78146695_78146697del, NC_000017.10:g.78146696_78146697del, NC_000017.10:g.78146697del, NC_000017.10:g.78146697dup, NC_000017.10:g.78146696_78146697dup, NC_000017.10:g.78146695_78146697dup, NC_000017.10:g.78146694_78146697dup, NC_000017.10:g.78146693_78146697dup, NC_000017.10:g.78146692_78146697dup, NC_000017.10:g.78146691_78146697dup, NC_000017.10:g.78146690_78146697dup, NC_000017.10:g.78146689_78146697dup, NC_000017.10:g.78146688_78146697dup, NC_000017.10:g.78146687_78146697dup, NC_000017.10:g.78146686_78146697dup, NC_000017.10:g.78146685_78146697dup, NC_000017.10:g.78146684_78146697dup, NC_000017.10:g.78146683_78146697dup, NC_000017.10:g.78146672_78146697T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.78146682_78146697dup, NC_000017.10:g.78146681_78146697dup, NC_000017.10:g.78146680_78146697dup, NC_000017.10:g.78146679_78146697dup, NC_000017.10:g.78146678_78146697dup, NC_000017.10:g.78146677_78146697dup, NC_000017.10:g.78146676_78146697dup, NC_000017.10:g.78146675_78146697dup, NC_000017.10:g.78146674_78146697dup, NC_000017.10:g.78146673_78146697dup, NC_000017.10:g.78146672_78146697dup, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78146697_78146698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7892_7907del, NG_032778.1:g.7893_7907del, NG_032778.1:g.7894_7907del, NG_032778.1:g.7896_7907del, NG_032778.1:g.7897_7907del, NG_032778.1:g.7898_7907del, NG_032778.1:g.7899_7907del, NG_032778.1:g.7900_7907del, NG_032778.1:g.7901_7907del, NG_032778.1:g.7902_7907del, NG_032778.1:g.7903_7907del, NG_032778.1:g.7904_7907del, NG_032778.1:g.7905_7907del, NG_032778.1:g.7906_7907del, NG_032778.1:g.7907del, NG_032778.1:g.7907dup, NG_032778.1:g.7906_7907dup, NG_032778.1:g.7905_7907dup, NG_032778.1:g.7904_7907dup, NG_032778.1:g.7903_7907dup, NG_032778.1:g.7902_7907dup, NG_032778.1:g.7901_7907dup, NG_032778.1:g.7900_7907dup, NG_032778.1:g.7899_7907dup, NG_032778.1:g.7898_7907dup, NG_032778.1:g.7897_7907dup, NG_032778.1:g.7896_7907dup, NG_032778.1:g.7895_7907dup, NG_032778.1:g.7894_7907dup, NG_032778.1:g.7893_7907dup, NG_032778.1:g.7882_7907T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_032778.1:g.7892_7907dup, NG_032778.1:g.7891_7907dup, NG_032778.1:g.7890_7907dup, NG_032778.1:g.7889_7907dup, NG_032778.1:g.7888_7907dup, NG_032778.1:g.7887_7907dup, NG_032778.1:g.7886_7907dup, NG_032778.1:g.7885_7907dup, NG_032778.1:g.7884_7907dup, NG_032778.1:g.7883_7907dup, NG_032778.1:g.7882_7907dup, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032778.1:g.7907_7908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197589_197604del, NW_025791802.1:g.197590_197604del, NW_025791802.1:g.197591_197604del, NW_025791802.1:g.197593_197604del, NW_025791802.1:g.197594_197604del, NW_025791802.1:g.197595_197604del, NW_025791802.1:g.197596_197604del, NW_025791802.1:g.197597_197604del, NW_025791802.1:g.197598_197604del, NW_025791802.1:g.197599_197604del, NW_025791802.1:g.197600_197604del, NW_025791802.1:g.197601_197604del, NW_025791802.1:g.197602_197604del, NW_025791802.1:g.197603_197604del, NW_025791802.1:g.197604del, NW_025791802.1:g.197604dup, NW_025791802.1:g.197603_197604dup, NW_025791802.1:g.197602_197604dup, NW_025791802.1:g.197601_197604dup, NW_025791802.1:g.197600_197604dup, NW_025791802.1:g.197599_197604dup, NW_025791802.1:g.197598_197604dup, NW_025791802.1:g.197597_197604dup, NW_025791802.1:g.197596_197604dup, NW_025791802.1:g.197595_197604dup, NW_025791802.1:g.197594_197604dup, NW_025791802.1:g.197593_197604dup, NW_025791802.1:g.197592_197604dup, NW_025791802.1:g.197591_197604dup, NW_025791802.1:g.197590_197604dup, NW_025791802.1:g.197579_197604T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_025791802.1:g.197589_197604dup, NW_025791802.1:g.197588_197604dup, NW_025791802.1:g.197587_197604dup, NW_025791802.1:g.197586_197604dup, NW_025791802.1:g.197585_197604dup, NW_025791802.1:g.197584_197604dup, NW_025791802.1:g.197583_197604dup, NW_025791802.1:g.197582_197604dup, NW_025791802.1:g.197581_197604dup, NW_025791802.1:g.197580_197604dup, NW_025791802.1:g.197579_197604dup, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791802.1:g.197604_197605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908112207.

rs1490811220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:80198683 (GRCh38)
17:78172482 (GRCh37)
Canonical SPDI:: NC_000017.11:80198682:G:A,NC_000017.11:80198682:G:C
Gene:: CARD14 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000017.11:g.80198683G>A, NC_000017.11:g.80198683G>C, NC_000017.10:g.78172482G>A, NC_000017.10:g.78172482G>C, NG_032778.1:g.33692G>A, NG_032778.1:g.33692G>C, NM_052819.3:c.1232G>A, NM_052819.3:c.1232G>C, NM_052819.2:c.1232G>A, NM_052819.2:c.1232G>C, NW_025791802.1:g.223389G>A, NW_025791802.1:g.223389G>C, NP_438170.1:p.Arg411Lys, NP_438170.1:p.Arg411Thr

Select item 14907535548.

rs1490753554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80200632 (GRCh38)
17:78174431 (GRCh37)
Canonical SPDI:: NC_000017.11:80200631:G:A
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80200632G>A, NC_000017.10:g.78174431G>A, NG_032778.1:g.35641G>A, NW_025791802.1:g.225338G>A

Select item 14907259049.

rs1490725904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80206656 (GRCh38)
17:78180455 (GRCh37)
Canonical SPDI:: NC_000017.11:80206655:A:G
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80206656A>G, NC_000017.10:g.78180455A>G, NG_032778.1:g.41665A>G, NW_025791802.1:g.231362A>G, XR_007065415.1:n.1457T>C, XR_007065423.1:n.1457T>C, XR_007065417.1:n.1457T>C, XR_007065418.1:n.1457T>C, XR_007065404.1:n.1457T>C, XR_007065421.1:n.1457T>C, XR_007065422.1:n.1457T>C, XR_007065420.1:n.1457T>C, XR_007065419.1:n.1457T>C, XR_007065407.1:n.1457T>C, XR_007065405.1:n.1457T>C, XR_007065408.1:n.1457T>C, XR_007065416.1:n.1457T>C, XR_007065406.1:n.1457T>C, XR_007065424.1:n.1457T>C, XR_007065403.1:n.1457T>C, XR_007065410.1:n.1457T>C, XR_007065414.1:n.1457T>C, XR_007069550.1:n.809T>C, XR_007069555.1:n.809T>C, XR_007069556.1:n.809T>C, XR_007069552.1:n.809T>C, XR_007069562.1:n.809T>C, XR_007069564.1:n.809T>C, XR_007069561.1:n.809T>C, XR_007069558.1:n.809T>C, XR_007069567.1:n.809T>C, XR_007069554.1:n.809T>C, XR_007069549.1:n.809T>C, XR_007069559.1:n.809T>C, XR_007069557.1:n.809T>C, XR_007069565.1:n.1351T>C, XR_007069563.1:n.809T>C, XR_007069560.1:n.809T>C, XR_007069551.1:n.809T>C, XR_007069553.1:n.809T>C, XR_007069547.1:n.809T>C, XR_007069548.1:n.576T>C

Select item 149068969410.

rs1490689694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:80170195 (GRCh38)
17:78143994 (GRCh37)
Canonical SPDI:: NC_000017.11:80170194:C:G,NC_000017.11:80170194:C:T
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.80170195C>G, NC_000017.11:g.80170195C>T, NC_000017.10:g.78143994C>G, NC_000017.10:g.78143994C>T, NG_032778.1:g.5204C>G, NG_032778.1:g.5204C>T, NW_025791802.1:g.194901C>G, NW_025791802.1:g.194901C>T

Select item 149058537811.

rs1490585378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:80201638 (GRCh38)
17:78175437 (GRCh37)
Canonical SPDI:: NC_000017.11:80201637:G:A,NC_000017.11:80201637:G:T
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.001097/18 (TOMMO)
A=0.002729/5 (Korea1K)
A=0.004791/14 (KOREAN)
HGVS:: NC_000017.11:g.80201638G>A, NC_000017.11:g.80201638G>T, NC_000017.10:g.78175437G>A, NC_000017.10:g.78175437G>T, NG_032778.1:g.36647G>A, NG_032778.1:g.36647G>T, NW_025791802.1:g.226344G>A, NW_025791802.1:g.226344G>T, XR_001752590.2:n.2273C>T, XR_001752590.2:n.2273C>A, XR_001752590.1:n.2273C>T, XR_001752590.1:n.2273C>A, XR_007065415.1:n.5638C>T, XR_007065415.1:n.5638C>A, XR_007065423.1:n.5548C>T, XR_007065423.1:n.5548C>A, XR_007065417.1:n.5512C>T, XR_007065417.1:n.5512C>A, XR_007065418.1:n.5105C>T, XR_007065418.1:n.5105C>A, XR_007065404.1:n.5007C>T, XR_007065404.1:n.5007C>A, XR_007065421.1:n.4465C>T, XR_007065421.1:n.4465C>A, XR_007065422.1:n.4463C>T, XR_007065422.1:n.4463C>A, XR_007065420.1:n.4337C>T, XR_007065420.1:n.4337C>A, XR_007065419.1:n.3930C>T, XR_007065419.1:n.3930C>A, XR_007065407.1:n.3832C>T, XR_007065407.1:n.3832C>A, XR_007065414.1:n.3811C>T, XR_007065414.1:n.3811C>A, XR_007065405.1:n.3685C>T, XR_007065405.1:n.3685C>A, XR_007065408.1:n.3388C>T, XR_007065408.1:n.3388C>A, XR_007065416.1:n.3290C>T, XR_007065416.1:n.3290C>A, XR_007065406.1:n.3278C>T, XR_007065406.1:n.3278C>A, XR_007065424.1:n.3188C>T, XR_007065424.1:n.3188C>A, XR_007065403.1:n.3180C>T, XR_007065403.1:n.3180C>A, XR_007065410.1:n.3090C>T, XR_007065410.1:n.3090C>A, XR_007065413.1:n.2814C>T, XR_007065413.1:n.2814C>A, XR_007065411.1:n.2261C>T, XR_007065411.1:n.2261C>A, XR_007065412.1:n.1970C>T, XR_007065412.1:n.1970C>A, XR_007065409.1:n.4621C>T, XR_007065409.1:n.4621C>A, XR_007069550.1:n.4990C>T, XR_007069550.1:n.4990C>A, XR_007069555.1:n.4864C>T, XR_007069555.1:n.4864C>A, XR_007069556.1:n.4457C>T, XR_007069556.1:n.4457C>A, XR_007069552.1:n.4359C>T, XR_007069552.1:n.4359C>A, XR_007069562.1:n.3817C>T, XR_007069562.1:n.3817C>A, XR_007069564.1:n.3815C>T, XR_007069564.1:n.3815C>A, XR_007069561.1:n.3689C>T, XR_007069561.1:n.3689C>A, XR_007069566.1:n.3342C>T, XR_007069566.1:n.3342C>A, XR_007069558.1:n.3282C>T, XR_007069558.1:n.3282C>A, XR_007069567.1:n.3273C>T, XR_007069567.1:n.3273C>A, XR_007069554.1:n.3184C>T, XR_007069554.1:n.3184C>A, XR_007069549.1:n.3163C>T, XR_007069549.1:n.3163C>A, XR_007069559.1:n.3058C>T, XR_007069559.1:n.3058C>A, XR_007069557.1:n.3037C>T, XR_007069557.1:n.3037C>A, XR_007069565.1:n.2984C>T, XR_007069565.1:n.2984C>A, XR_007069563.1:n.2740C>T, XR_007069563.1:n.2740C>A, XR_007069560.1:n.2651C>T, XR_007069560.1:n.2651C>A, XR_007069551.1:n.2642C>T, XR_007069551.1:n.2642C>A, XR_007069553.1:n.2630C>T, XR_007069553.1:n.2630C>A, XR_007069547.1:n.2532C>T, XR_007069547.1:n.2532C>A, XR_007069548.1:n.2299C>T, XR_007069548.1:n.2299C>A, XR_007069568.1:n.1322C>T, XR_007069568.1:n.1322C>A

Select item 149056298912.

rs1490562989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80206283 (GRCh38)
17:78180082 (GRCh37)
Canonical SPDI:: NC_000017.11:80206282:A:G
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.80206283A>G, NC_000017.10:g.78180082A>G, NG_032778.1:g.41292A>G, NW_025791802.1:g.230989A>G, XR_007065415.1:n.1830T>C, XR_007065423.1:n.1830T>C, XR_007065417.1:n.1830T>C, XR_007065418.1:n.1830T>C, XR_007065404.1:n.1830T>C, XR_007065421.1:n.1830T>C, XR_007065422.1:n.1830T>C, XR_007065420.1:n.1830T>C, XR_007065419.1:n.1830T>C, XR_007065407.1:n.1830T>C, XR_007065405.1:n.1830T>C, XR_007065408.1:n.1830T>C, XR_007065416.1:n.1830T>C, XR_007065406.1:n.1830T>C, XR_007065424.1:n.1830T>C, XR_007065403.1:n.1830T>C, XR_007065410.1:n.1830T>C, XR_007065414.1:n.1830T>C, XR_007069550.1:n.1182T>C, XR_007069555.1:n.1182T>C, XR_007069556.1:n.1182T>C, XR_007069552.1:n.1182T>C, XR_007069562.1:n.1182T>C, XR_007069564.1:n.1182T>C, XR_007069561.1:n.1182T>C, XR_007069558.1:n.1182T>C, XR_007069567.1:n.1182T>C, XR_007069554.1:n.1182T>C, XR_007069549.1:n.1182T>C, XR_007069559.1:n.1182T>C, XR_007069557.1:n.1182T>C, XR_007069565.1:n.1724T>C, XR_007069563.1:n.1182T>C, XR_007069560.1:n.1182T>C, XR_007069551.1:n.1182T>C, XR_007069553.1:n.1182T>C, XR_007069547.1:n.1182T>C, XR_007069548.1:n.949T>C

Select item 149054621613.

rs1490546216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:80205388 (GRCh38)
17:78179187 (GRCh37)
Canonical SPDI:: NC_000017.11:80205387:G:C
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80205388G>C, NC_000017.10:g.78179187G>C, NG_032778.1:g.40397G>C, NW_025791802.1:g.230094G>C, XR_001752590.2:n.1708C>G, XR_001752590.1:n.1708C>G, XR_007065415.1:n.2725C>G, XR_007065423.1:n.2635C>G, XR_007065417.1:n.2725C>G, XR_007065418.1:n.2725C>G, XR_007065404.1:n.2725C>G, XR_007065409.1:n.1708C>G, XR_007065421.1:n.2725C>G, XR_007065422.1:n.2725C>G, XR_007065420.1:n.2725C>G, XR_007065419.1:n.2725C>G, XR_007065407.1:n.2725C>G, XR_007065414.1:n.2725C>G, XR_007065405.1:n.2725C>G, XR_007065408.1:n.2725C>G, XR_007065416.1:n.2725C>G, XR_007065406.1:n.2725C>G, XR_007065424.1:n.2635C>G, XR_007065403.1:n.2725C>G, XR_007065410.1:n.2635C>G, XR_007065413.1:n.1618C>G, XR_007065411.1:n.1708C>G, XR_007065412.1:n.1515C>G, XR_007069550.1:n.2077C>G, XR_007069555.1:n.2077C>G, XR_007069556.1:n.2077C>G, XR_007069552.1:n.2077C>G, XR_007069562.1:n.2077C>G, XR_007069564.1:n.2077C>G, XR_007069561.1:n.2077C>G, XR_007069566.1:n.1060C>G, XR_007069558.1:n.2077C>G, XR_007069567.1:n.2077C>G, XR_007069554.1:n.2077C>G, XR_007069549.1:n.2077C>G, XR_007069559.1:n.2077C>G, XR_007069557.1:n.2077C>G, XR_007069565.1:n.2529C>G, XR_007069563.1:n.2077C>G, XR_007069560.1:n.2077C>G, XR_007069551.1:n.2077C>G, XR_007069553.1:n.2077C>G, XR_007069547.1:n.2077C>G, XR_007069548.1:n.1844C>G, XR_007069568.1:n.867C>G

Select item 149051914014.

rs1490519140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80195689 (GRCh38)
17:78169488 (GRCh37)
Canonical SPDI:: NC_000017.11:80195688:A:G
Gene:: CARD14 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.80195689A>G, NC_000017.10:g.78169488A>G, NG_032778.1:g.30698A>G, NW_025791802.1:g.220395A>G

Select item 149046085615.

rs1490460856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:80169385 (GRCh38)
17:78143184 (GRCh37)
Canonical SPDI:: NC_000017.11:80169384:C:A,NC_000017.11:80169384:C:T
Gene:: CARD14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80169385C>A, NC_000017.11:g.80169385C>T, NC_000017.10:g.78143184C>A, NC_000017.10:g.78143184C>T, NG_032778.1:g.4394C>A, NG_032778.1:g.4394C>T, NW_025791802.1:g.194091C>A, NW_025791802.1:g.194091C>T

Select item 149045641616.

rs1490456416 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:80199585 (GRCh38)
17:78173384 (GRCh37)
Canonical SPDI:: NC_000017.11:80199582:AAAA:AA
Gene:: CARD14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.80199585_80199586del, NC_000017.10:g.78173384_78173385del, NG_032778.1:g.34594_34595del, NW_025791802.1:g.224291_224292del

Select item 149043949217.

rs1490439492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80187182 (GRCh38)
17:78160981 (GRCh37)
Canonical SPDI:: NC_000017.11:80187181:C:T
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.80187182C>T, NC_000017.10:g.78160981C>T, NG_032778.1:g.22191C>T, NW_025791802.1:g.211888C>T

Select item 149040806718.

rs1490408067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:80186373 (GRCh38)
17:78160172 (GRCh37)
Canonical SPDI:: NC_000017.11:80186372:A:T
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80186373A>T, NC_000017.10:g.78160172A>T, NG_032778.1:g.21382A>T, NW_025791802.1:g.211079A>T

Select item 149038067419.

rs1490380674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACGCGC>- [Show Flanks]
Chromosome:: 17:80173318 (GRCh38)
17:78147117 (GRCh37)
Canonical SPDI:: NC_000017.11:80173316:CACACACACGCGC:C
Gene:: CARD14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000017.11:g.80173318_80173329del, NC_000017.10:g.78147117_78147128del, NG_032778.1:g.8327_8338del, NW_025791802.1:g.198024_198035del

Select item 149026985520.

rs1490269855 has merged into rs759593746 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 17:80207876 (GRCh38)
17:78181675 (GRCh37)
Canonical SPDI:: NC_000017.11:80207864:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:80207864:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:80207864:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:80207864:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SGSH (Varview), CARD14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00012/2 (ALFA)
A=0.05/2 (GENOME_DK)
HGVS:: NC_000017.11:g.80207876_80207877del, NC_000017.11:g.80207877del, NC_000017.11:g.80207877dup, NC_000017.11:g.80207876_80207877dup, NC_000017.10:g.78181675_78181676del, NC_000017.10:g.78181676del, NC_000017.10:g.78181676dup, NC_000017.10:g.78181675_78181676dup, NG_032778.1:g.42885_42886del, NG_032778.1:g.42886del, NG_032778.1:g.42886dup, NG_032778.1:g.42885_42886dup, NG_008229.1:g.17535_17536del, NG_008229.1:g.17536del, NG_008229.1:g.17536dup, NG_008229.1:g.17535_17536dup, NW_025791802.1:g.232582_232583del, NW_025791802.1:g.232583del, NW_025791802.1:g.232583dup, NW_025791802.1:g.232582_232583dup, XM_047436719.1:c.*787_*788del, XM_047436719.1:c.*788del, XM_047436719.1:c.*788dup, XM_047436719.1:c.*787_*788dup, XR_007069550.1:n.278_279del, XR_007069550.1:n.279del, XR_007069550.1:n.279dup, XR_007069550.1:n.278_279dup, XR_007069555.1:n.278_279del, XR_007069555.1:n.279del, XR_007069555.1:n.279dup, XR_007069555.1:n.278_279dup, XR_007069556.1:n.278_279del, XR_007069556.1:n.279del, XR_007069556.1:n.279dup, XR_007069556.1:n.278_279dup, XR_007069552.1:n.278_279del, XR_007069552.1:n.279del, XR_007069552.1:n.279dup, XR_007069552.1:n.278_279dup, XR_007069562.1:n.278_279del, XR_007069562.1:n.279del, XR_007069562.1:n.279dup, XR_007069562.1:n.278_279dup, XR_007069564.1:n.278_279del, XR_007069564.1:n.279del, XR_007069564.1:n.279dup, XR_007069564.1:n.278_279dup, XR_007069561.1:n.278_279del, XR_007069561.1:n.279del, XR_007069561.1:n.279dup, XR_007069561.1:n.278_279dup, XR_007069566.1:n.278_279del, XR_007069566.1:n.279del, XR_007069566.1:n.279dup, XR_007069566.1:n.278_279dup, XR_007069558.1:n.278_279del, XR_007069558.1:n.279del, XR_007069558.1:n.279dup, XR_007069558.1:n.278_279dup, XR_007069567.1:n.278_279del, XR_007069567.1:n.279del, XR_007069567.1:n.279dup, XR_007069567.1:n.278_279dup, XR_007069554.1:n.278_279del, XR_007069554.1:n.279del, XR_007069554.1:n.279dup, XR_007069554.1:n.278_279dup, XR_007069549.1:n.278_279del, XR_007069549.1:n.279del, XR_007069549.1:n.279dup, XR_007069549.1:n.278_279dup, XR_007069559.1:n.278_279del, XR_007069559.1:n.279del, XR_007069559.1:n.279dup, XR_007069559.1:n.278_279dup, XR_007069557.1:n.278_279del, XR_007069557.1:n.279del, XR_007069557.1:n.279dup, XR_007069557.1:n.278_279dup, XR_007069565.1:n.278_279del, XR_007069565.1:n.279del, XR_007069565.1:n.279dup, XR_007069565.1:n.278_279dup, XR_007069563.1:n.278_279del, XR_007069563.1:n.279del, XR_007069563.1:n.279dup, XR_007069563.1:n.278_279dup, XR_007069560.1:n.278_279del, XR_007069560.1:n.279del, XR_007069560.1:n.279dup, XR_007069560.1:n.278_279dup, XR_007069551.1:n.278_279del, XR_007069551.1:n.279del, XR_007069551.1:n.279dup, XR_007069551.1:n.278_279dup, XR_007069553.1:n.278_279del, XR_007069553.1:n.279del, XR_007069553.1:n.279dup, XR_007069553.1:n.278_279dup, XR_007069547.1:n.278_279del, XR_007069547.1:n.279del, XR_007069547.1:n.279dup, XR_007069547.1:n.278_279dup, XR_007069568.1:n.278_279del, XR_007069568.1:n.279del, XR_007069568.1:n.279dup, XR_007069568.1:n.278_279dup

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