SNP Links for Gene (Select 6940) - SNP

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Select item 14915569111.

rs1491556911 [Homo sapiens]

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

Select item 14915324082.

rs1491532408 has merged into rs11287612 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:178715911 (GRCh38)
5:178142912 (GRCh37)
Canonical SPDI:: NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0509/255 (1000Genomes)
-=0.2839/1094 (ALSPAC)
HGVS:: NC_000005.10:g.178715911_178715914del, NC_000005.10:g.178715912_178715914del, NC_000005.10:g.178715913_178715914del, NC_000005.10:g.178715914del, NC_000005.10:g.178715914dup, NC_000005.10:g.178715907_178715914dup, NC_000005.9:g.178142912_178142915del, NC_000005.9:g.178142913_178142915del, NC_000005.9:g.178142914_178142915del, NC_000005.9:g.178142915del, NC_000005.9:g.178142915dup, NC_000005.9:g.178142908_178142915dup

Select item 14914458963.

rs1491445896 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:178729556 (GRCh38)
5:178156557 (GRCh37)
Canonical SPDI:: NC_000005.10:178729555:CT:
Gene:: ZNF354A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000142/2 (ALFA)
-=0.000032/4 (GnomAD)
HGVS:: NC_000005.10:g.178729556_178729557del, NC_000005.9:g.178156557_178156558del, XM_011534645.3:c.-765_-764del, XM_011534645.2:c.-765_-764del, XM_011534645.1:c.-765_-764del

Select item 14912517204.

rs1491251720 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:178728463 (GRCh38)
5:178155465 (GRCh37)
Canonical SPDI:: NC_000005.10:178728463::C
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000201/28 (GnomAD)
C=0.000212/4 (TOMMO)
C=0.000223/1 (Estonian)
C=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.178728463_178728464insC, NC_000005.9:g.178155464_178155465insC

Select item 14912148255.

rs1491214825 has merged into rs58528758 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178731810 (GRCh38)
5:178158811 (GRCh37)
Canonical SPDI:: NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF354A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2881/1443 (1000Genomes)
HGVS:: NC_000005.10:g.178731810_178731815del, NC_000005.10:g.178731811_178731815del, NC_000005.10:g.178731812_178731815del, NC_000005.10:g.178731813_178731815del, NC_000005.10:g.178731814_178731815del, NC_000005.10:g.178731815del, NC_000005.10:g.178731815dup, NC_000005.10:g.178731814_178731815dup, NC_000005.10:g.178731813_178731815dup, NC_000005.10:g.178731812_178731815dup, NC_000005.10:g.178731811_178731815dup, NC_000005.10:g.178731810_178731815dup, NC_000005.10:g.178731809_178731815dup, NC_000005.10:g.178731808_178731815dup, NC_000005.10:g.178731807_178731815dup, NC_000005.10:g.178731806_178731815dup, NC_000005.10:g.178731805_178731815dup, NC_000005.10:g.178731804_178731815dup, NC_000005.10:g.178731803_178731815dup, NC_000005.10:g.178731802_178731815dup, NC_000005.10:g.178731801_178731815dup, NC_000005.10:g.178731800_178731815dup, NC_000005.10:g.178731799_178731815dup, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158811_178158816del, NC_000005.9:g.178158812_178158816del, NC_000005.9:g.178158813_178158816del, NC_000005.9:g.178158814_178158816del, NC_000005.9:g.178158815_178158816del, NC_000005.9:g.178158816del, NC_000005.9:g.178158816dup, NC_000005.9:g.178158815_178158816dup, NC_000005.9:g.178158814_178158816dup, NC_000005.9:g.178158813_178158816dup, NC_000005.9:g.178158812_178158816dup, NC_000005.9:g.178158811_178158816dup, NC_000005.9:g.178158810_178158816dup, NC_000005.9:g.178158809_178158816dup, NC_000005.9:g.178158808_178158816dup, NC_000005.9:g.178158807_178158816dup, NC_000005.9:g.178158806_178158816dup, NC_000005.9:g.178158805_178158816dup, NC_000005.9:g.178158804_178158816dup, NC_000005.9:g.178158803_178158816dup, NC_000005.9:g.178158802_178158816dup, NC_000005.9:g.178158801_178158816dup, NC_000005.9:g.178158800_178158816dup, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911829926.

rs1491182992 has merged into rs138930579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:178731343 (GRCh38)
5:178158344 (GRCh37)
Canonical SPDI:: NC_000005.10:178731336:TTTTTTTT:TTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTTTTTTT,NC_000005.10:178731336:TTTTTTTT:TTTTTTTTTTTTT
Gene:: ZNF354A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.125/1 (KOREAN)
T=0.3223/1614 (1000Genomes)
HGVS:: NC_000005.10:g.178731343_178731344del, NC_000005.10:g.178731344del, NC_000005.10:g.178731344dup, NC_000005.10:g.178731343_178731344dup, NC_000005.10:g.178731342_178731344dup, NC_000005.10:g.178731341_178731344dup, NC_000005.10:g.178731340_178731344dup, NC_000005.9:g.178158344_178158345del, NC_000005.9:g.178158345del, NC_000005.9:g.178158345dup, NC_000005.9:g.178158344_178158345dup, NC_000005.9:g.178158343_178158345dup, NC_000005.9:g.178158342_178158345dup, NC_000005.9:g.178158341_178158345dup

Select item 14911403477.

rs1491140347 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:178715900 (GRCh38)
5:178142901 (GRCh37)
Canonical SPDI:: NC_000005.10:178715899:GT:
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000057/1 (GnomAD)
HGVS:: NC_000005.10:g.178715900_178715901del, NC_000005.9:g.178142901_178142902del

Select item 14910965838.

rs1491096583 has merged into rs58599454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 5:178731334 (GRCh38)
5:178158335 (GRCh37)
Canonical SPDI:: NC_000005.10:178731322:TATATATATATATAT:TATATATATAT,NC_000005.10:178731322:TATATATATATATAT:TATATATATATAT,NC_000005.10:178731322:TATATATATATATAT:TATATATATATATATAT,NC_000005.10:178731322:TATATATATATATAT:TATATATATATATATATAT,NC_000005.10:178731322:TATATATATATATAT:TATATATATATATATATATAT
Gene:: ZNF354A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.11204/67 (NorthernSweden)
TA=0.15854/611 (ALSPAC)
TA=0.16154/599 (TWINSUK)
TA=0.225/9 (GENOME_DK)
HGVS:: NC_000005.10:g.178731324AT[5], NC_000005.10:g.178731324AT[6], NC_000005.10:g.178731324AT[8], NC_000005.10:g.178731324AT[9], NC_000005.10:g.178731324AT[10], NC_000005.9:g.178158325AT[5], NC_000005.9:g.178158325AT[6], NC_000005.9:g.178158325AT[8], NC_000005.9:g.178158325AT[9], NC_000005.9:g.178158325AT[10]

Select item 14910650159.

rs1491065015 has merged into rs11327025 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 5:178719958 (GRCh38)
5:178146959 (GRCh37)
Canonical SPDI:: NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178719946:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.325/13 (GENOME_DK)
A=0.3604/1805 (1000Genomes)
HGVS:: NC_000005.10:g.178719958_178719961del, NC_000005.10:g.178719959_178719961del, NC_000005.10:g.178719960_178719961del, NC_000005.10:g.178719961del, NC_000005.10:g.178719961dup, NC_000005.10:g.178719960_178719961dup, NC_000005.9:g.178146959_178146962del, NC_000005.9:g.178146960_178146962del, NC_000005.9:g.178146961_178146962del, NC_000005.9:g.178146962del, NC_000005.9:g.178146962dup, NC_000005.9:g.178146961_178146962dup

Select item 149085881410.

rs1490858814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:178726925 (GRCh38)
5:178153926 (GRCh37)
Canonical SPDI:: NC_000005.10:178726924:G:A
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.178726925G>A, NC_000005.9:g.178153926G>A

Select item 149065643411.

rs1490656434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:178713917 (GRCh38)
5:178140918 (GRCh37)
Canonical SPDI:: NC_000005.10:178713916:T:A
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.178713917T>A, NC_000005.9:g.178140918T>A

Select item 149064145112.

rs1490641451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:178714897 (GRCh38)
5:178141898 (GRCh37)
Canonical SPDI:: NC_000005.10:178714896:G:A,NC_000005.10:178714896:G:T
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.178714897G>A, NC_000005.10:g.178714897G>T, NC_000005.9:g.178141898G>A, NC_000005.9:g.178141898G>T

Select item 149058087513.

rs1490580875 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:178711037 (GRCh38)
5:178138038 (GRCh37)
Canonical SPDI:: NC_000005.10:178711036:T:
Gene:: ZNF354A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.178711037del, NC_000005.9:g.178138038del

Select item 149056771014.

rs1490567710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:178728741 (GRCh38)
5:178155742 (GRCh37)
Canonical SPDI:: NC_000005.10:178728740:G:C
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.178728741G>C, NC_000005.9:g.178155742G>C

Select item 149056550315.

rs1490565503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:178711241 (GRCh38)
5:178138242 (GRCh37)
Canonical SPDI:: NC_000005.10:178711240:C:T
Gene:: ZNF354A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178711241C>T, NC_000005.9:g.178138242C>T

Select item 149047435216.

rs1490474352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:178724315 (GRCh38)
5:178151316 (GRCh37)
Canonical SPDI:: NC_000005.10:178724314:C:G,NC_000005.10:178724314:C:T
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000079/21 (TOPMED)
G=0.000156/1 (1000Genomes)
T=0.000354/6 (TOMMO)
T=0.001027/3 (KOREAN)
T=0.001638/3 (Korea1K)
HGVS:: NC_000005.10:g.178724315C>G, NC_000005.10:g.178724315C>T, NC_000005.9:g.178151316C>G, NC_000005.9:g.178151316C>T

Select item 149044222017.

rs1490442220 has merged into rs58528758 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178731810 (GRCh38)
5:178158811 (GRCh37)
Canonical SPDI:: NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178731798:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF354A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2881/1443 (1000Genomes)
HGVS:: NC_000005.10:g.178731810_178731815del, NC_000005.10:g.178731811_178731815del, NC_000005.10:g.178731812_178731815del, NC_000005.10:g.178731813_178731815del, NC_000005.10:g.178731814_178731815del, NC_000005.10:g.178731815del, NC_000005.10:g.178731815dup, NC_000005.10:g.178731814_178731815dup, NC_000005.10:g.178731813_178731815dup, NC_000005.10:g.178731812_178731815dup, NC_000005.10:g.178731811_178731815dup, NC_000005.10:g.178731810_178731815dup, NC_000005.10:g.178731809_178731815dup, NC_000005.10:g.178731808_178731815dup, NC_000005.10:g.178731807_178731815dup, NC_000005.10:g.178731806_178731815dup, NC_000005.10:g.178731805_178731815dup, NC_000005.10:g.178731804_178731815dup, NC_000005.10:g.178731803_178731815dup, NC_000005.10:g.178731802_178731815dup, NC_000005.10:g.178731801_178731815dup, NC_000005.10:g.178731800_178731815dup, NC_000005.10:g.178731799_178731815dup, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178731815_178731816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158811_178158816del, NC_000005.9:g.178158812_178158816del, NC_000005.9:g.178158813_178158816del, NC_000005.9:g.178158814_178158816del, NC_000005.9:g.178158815_178158816del, NC_000005.9:g.178158816del, NC_000005.9:g.178158816dup, NC_000005.9:g.178158815_178158816dup, NC_000005.9:g.178158814_178158816dup, NC_000005.9:g.178158813_178158816dup, NC_000005.9:g.178158812_178158816dup, NC_000005.9:g.178158811_178158816dup, NC_000005.9:g.178158810_178158816dup, NC_000005.9:g.178158809_178158816dup, NC_000005.9:g.178158808_178158816dup, NC_000005.9:g.178158807_178158816dup, NC_000005.9:g.178158806_178158816dup, NC_000005.9:g.178158805_178158816dup, NC_000005.9:g.178158804_178158816dup, NC_000005.9:g.178158803_178158816dup, NC_000005.9:g.178158802_178158816dup, NC_000005.9:g.178158801_178158816dup, NC_000005.9:g.178158800_178158816dup, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.178158816_178158817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149031724618.

rs1490317246 has merged into rs11287612 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:178715911 (GRCh38)
5:178142912 (GRCh37)
Canonical SPDI:: NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:178715900:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0509/255 (1000Genomes)
-=0.2839/1094 (ALSPAC)
HGVS:: NC_000005.10:g.178715911_178715914del, NC_000005.10:g.178715912_178715914del, NC_000005.10:g.178715913_178715914del, NC_000005.10:g.178715914del, NC_000005.10:g.178715914dup, NC_000005.10:g.178715907_178715914dup, NC_000005.9:g.178142912_178142915del, NC_000005.9:g.178142913_178142915del, NC_000005.9:g.178142914_178142915del, NC_000005.9:g.178142915del, NC_000005.9:g.178142915dup, NC_000005.9:g.178142908_178142915dup

Select item 149019896419.

rs1490198964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178715828 (GRCh38)
5:178142829 (GRCh37)
Canonical SPDI:: NC_000005.10:178715827:T:C
Gene:: ZNF354A (Varview)
Functional Consequence:: 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_000005.10:g.178715828T>C, NC_000005.9:g.178142829T>C

Select item 149014326120.

rs1490143261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:178721941 (GRCh38)
5:178148942 (GRCh37)
Canonical SPDI:: NC_000005.10:178721940:C:T
Gene:: ZNF354A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.178721941C>T, NC_000005.9:g.178148942C>T

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