SNP Links for Gene (Select 9422) - SNP

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Select item 14914610871.

rs1491461087 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57222346 (GRCh38)
19:57733714 (GRCh37)
Canonical SPDI:: NC_000019.10:57222345:CA:
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00843/100 (ALFA)
HGVS:: NC_000019.10:g.57222346_57222347del, NC_000019.9:g.57733714_57733715del, NG_016432.1:g.35847_35848del, NM_003417.5:c.*9365_*9366del, NM_003417.4:c.*9365_*9366del, XM_011527522.3:c.*9365_*9366del, XM_047439724.1:c.*9365_*9366del

Select item 14911708442.

rs1491170844 has merged into rs879128650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT [Show Flanks]
Chromosome:: 19:57222530 (GRCh38)
19:57733898 (GRCh37)
Canonical SPDI:: NC_000019.10:57222522:TATATATATATAT:TATATAT,NC_000019.10:57222522:TATATATATATAT:TATATATAT,NC_000019.10:57222522:TATATATATATAT:TATATATATAT,NC_000019.10:57222522:TATATATATATAT:TATATATATATATAT
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.1125/65 (NorthernSweden)
-=0.1507/276 (Korea1K)
-=0.1755/33 (Vietnamese)
HGVS:: NC_000019.10:g.57222524AT[3], NC_000019.10:g.57222524AT[4], NC_000019.10:g.57222524AT[5], NC_000019.10:g.57222524AT[7], NC_000019.9:g.57733892AT[3], NC_000019.9:g.57733892AT[4], NC_000019.9:g.57733892AT[5], NC_000019.9:g.57733892AT[7], NG_016432.1:g.36025AT[3], NG_016432.1:g.36025AT[4], NG_016432.1:g.36025AT[5], NG_016432.1:g.36025AT[7], NM_003417.5:c.*9543AT[3], NM_003417.5:c.*9543AT[4], NM_003417.5:c.*9543AT[5], NM_003417.5:c.*9543AT[7], NM_003417.4:c.*9543AT[3], NM_003417.4:c.*9543AT[4], NM_003417.4:c.*9543AT[5], NM_003417.4:c.*9543AT[7], XM_011527522.3:c.*9543AT[3], XM_011527522.3:c.*9543AT[4], XM_011527522.3:c.*9543AT[5], XM_011527522.3:c.*9543AT[7], XM_047439724.1:c.*9543AT[3], XM_047439724.1:c.*9543AT[4], XM_047439724.1:c.*9543AT[5], XM_047439724.1:c.*9543AT[7]

Select item 14911620393.

rs1491162039 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:57217784 (GRCh38)
19:57729152 (GRCh37)
Canonical SPDI:: NC_000019.10:57217783:CT:
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000019.10:g.57217784_57217785del, NC_000019.9:g.57729152_57729153del, NG_016432.1:g.31285_31286del, NM_003417.5:c.*4803_*4804del, NM_003417.4:c.*4803_*4804del, XM_011527522.3:c.*4803_*4804del, XM_047439724.1:c.*4803_*4804del

Select item 14910629784.

rs1491062978 has merged into rs3833290 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:57222580 (GRCh38)
19:57733948 (GRCh37)
Canonical SPDI:: NC_000019.10:57222570:ACACACACACACACACA:ACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:57222570:ACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
ACAC=0.2524/53 (Vietnamese)
-=0.374/1632 (Estonian)
-=0.3748/1877 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000019.10:g.57222572CA[4], NC_000019.10:g.57222572CA[5], NC_000019.10:g.57222572CA[6], NC_000019.10:g.57222572CA[7], NC_000019.10:g.57222572CA[9], NC_000019.10:g.57222572CA[10], NC_000019.10:g.57222572CA[11], NC_000019.10:g.57222572CA[12], NC_000019.10:g.57222572CA[13], NC_000019.10:g.57222572CA[15], NC_000019.9:g.57733940CA[4], NC_000019.9:g.57733940CA[5], NC_000019.9:g.57733940CA[6], NC_000019.9:g.57733940CA[7], NC_000019.9:g.57733940CA[9], NC_000019.9:g.57733940CA[10], NC_000019.9:g.57733940CA[11], NC_000019.9:g.57733940CA[12], NC_000019.9:g.57733940CA[13], NC_000019.9:g.57733940CA[15], NG_016432.1:g.36073CA[4], NG_016432.1:g.36073CA[5], NG_016432.1:g.36073CA[6], NG_016432.1:g.36073CA[7], NG_016432.1:g.36073CA[9], NG_016432.1:g.36073CA[10], NG_016432.1:g.36073CA[11], NG_016432.1:g.36073CA[12], NG_016432.1:g.36073CA[13], NG_016432.1:g.36073CA[15], NM_003417.5:c.*9591CA[4], NM_003417.5:c.*9591CA[5], NM_003417.5:c.*9591CA[6], NM_003417.5:c.*9591CA[7], NM_003417.5:c.*9591CA[9], NM_003417.5:c.*9591CA[10], NM_003417.5:c.*9591CA[11], NM_003417.5:c.*9591CA[12], NM_003417.5:c.*9591CA[13], NM_003417.5:c.*9591CA[15], NM_003417.4:c.*9591CA[4], NM_003417.4:c.*9591CA[5], NM_003417.4:c.*9591CA[6], NM_003417.4:c.*9591CA[7], NM_003417.4:c.*9591CA[9], NM_003417.4:c.*9591CA[10], NM_003417.4:c.*9591CA[11], NM_003417.4:c.*9591CA[12], NM_003417.4:c.*9591CA[13], NM_003417.4:c.*9591CA[15], XM_011527522.3:c.*9591CA[4], XM_011527522.3:c.*9591CA[5], XM_011527522.3:c.*9591CA[6], XM_011527522.3:c.*9591CA[7], XM_011527522.3:c.*9591CA[9], XM_011527522.3:c.*9591CA[10], XM_011527522.3:c.*9591CA[11], XM_011527522.3:c.*9591CA[12], XM_011527522.3:c.*9591CA[13], XM_011527522.3:c.*9591CA[15], XM_047439724.1:c.*9591CA[4], XM_047439724.1:c.*9591CA[5], XM_047439724.1:c.*9591CA[6], XM_047439724.1:c.*9591CA[7], XM_047439724.1:c.*9591CA[9], XM_047439724.1:c.*9591CA[10], XM_047439724.1:c.*9591CA[11], XM_047439724.1:c.*9591CA[12], XM_047439724.1:c.*9591CA[13], XM_047439724.1:c.*9591CA[15]

Select item 14910432245.

rs1491043224 has merged into rs34929108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:57204231 (GRCh38)
19:57715599 (GRCh37)
Canonical SPDI:: NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57204217:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1278/640 (1000Genomes)
HGVS:: NC_000019.10:g.57204231_57204235del, NC_000019.10:g.57204233_57204235del, NC_000019.10:g.57204234_57204235del, NC_000019.10:g.57204235del, NC_000019.10:g.57204235dup, NC_000019.10:g.57204234_57204235dup, NC_000019.10:g.57204233_57204235dup, NC_000019.10:g.57204232_57204235dup, NC_000019.9:g.57715599_57715603del, NC_000019.9:g.57715601_57715603del, NC_000019.9:g.57715602_57715603del, NC_000019.9:g.57715603del, NC_000019.9:g.57715603dup, NC_000019.9:g.57715602_57715603dup, NC_000019.9:g.57715601_57715603dup, NC_000019.9:g.57715600_57715603dup, NG_016432.1:g.17732_17736del, NG_016432.1:g.17734_17736del, NG_016432.1:g.17735_17736del, NG_016432.1:g.17736del, NG_016432.1:g.17736dup, NG_016432.1:g.17735_17736dup, NG_016432.1:g.17734_17736dup, NG_016432.1:g.17733_17736dup

Select item 14910335266.

rs1491033526 has merged into rs757880568 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:57207551 (GRCh38)
19:57718919 (GRCh37)
Canonical SPDI:: NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57207545:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTT=0.075/3 (GENOME_DK)
HGVS:: NC_000019.10:g.57207551_57207566del, NC_000019.10:g.57207552_57207566del, NC_000019.10:g.57207554_57207566del, NC_000019.10:g.57207555_57207566del, NC_000019.10:g.57207556_57207566del, NC_000019.10:g.57207558_57207566del, NC_000019.10:g.57207559_57207566del, NC_000019.10:g.57207560_57207566del, NC_000019.10:g.57207561_57207566del, NC_000019.10:g.57207562_57207566del, NC_000019.10:g.57207564_57207566del, NC_000019.10:g.57207565_57207566del, NC_000019.10:g.57207566del, NC_000019.10:g.57207566dup, NC_000019.10:g.57207565_57207566dup, NC_000019.10:g.57207564_57207566dup, NC_000019.10:g.57207563_57207566dup, NC_000019.10:g.57207562_57207566dup, NC_000019.10:g.57207561_57207566dup, NC_000019.10:g.57207560_57207566dup, NC_000019.10:g.57207559_57207566dup, NC_000019.10:g.57207558_57207566dup, NC_000019.10:g.57207557_57207566dup, NC_000019.10:g.57207556_57207566dup, NC_000019.10:g.57207555_57207566dup, NC_000019.10:g.57207554_57207566dup, NC_000019.10:g.57207553_57207566dup, NC_000019.10:g.57207552_57207566dup, NC_000019.10:g.57207551_57207566dup, NC_000019.10:g.57207550_57207566dup, NC_000019.10:g.57207548_57207566dup, NC_000019.10:g.57207566_57207567insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57207566_57207567insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57207566_57207567insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57718919_57718934del, NC_000019.9:g.57718920_57718934del, NC_000019.9:g.57718922_57718934del, NC_000019.9:g.57718923_57718934del, NC_000019.9:g.57718924_57718934del, NC_000019.9:g.57718926_57718934del, NC_000019.9:g.57718927_57718934del, NC_000019.9:g.57718928_57718934del, NC_000019.9:g.57718929_57718934del, NC_000019.9:g.57718930_57718934del, NC_000019.9:g.57718932_57718934del, NC_000019.9:g.57718933_57718934del, NC_000019.9:g.57718934del, NC_000019.9:g.57718934dup, NC_000019.9:g.57718933_57718934dup, NC_000019.9:g.57718932_57718934dup, NC_000019.9:g.57718931_57718934dup, NC_000019.9:g.57718930_57718934dup, NC_000019.9:g.57718929_57718934dup, NC_000019.9:g.57718928_57718934dup, NC_000019.9:g.57718927_57718934dup, NC_000019.9:g.57718926_57718934dup, NC_000019.9:g.57718925_57718934dup, NC_000019.9:g.57718924_57718934dup, NC_000019.9:g.57718923_57718934dup, NC_000019.9:g.57718922_57718934dup, NC_000019.9:g.57718921_57718934dup, NC_000019.9:g.57718920_57718934dup, NC_000019.9:g.57718919_57718934dup, NC_000019.9:g.57718918_57718934dup, NC_000019.9:g.57718916_57718934dup, NC_000019.9:g.57718934_57718935insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57718934_57718935insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57718934_57718935insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016432.1:g.21052_21067del, NG_016432.1:g.21053_21067del, NG_016432.1:g.21055_21067del, NG_016432.1:g.21056_21067del, NG_016432.1:g.21057_21067del, NG_016432.1:g.21059_21067del, NG_016432.1:g.21060_21067del, NG_016432.1:g.21061_21067del, NG_016432.1:g.21062_21067del, NG_016432.1:g.21063_21067del, NG_016432.1:g.21065_21067del, NG_016432.1:g.21066_21067del, NG_016432.1:g.21067del, NG_016432.1:g.21067dup, NG_016432.1:g.21066_21067dup, NG_016432.1:g.21065_21067dup, NG_016432.1:g.21064_21067dup, NG_016432.1:g.21063_21067dup, NG_016432.1:g.21062_21067dup, NG_016432.1:g.21061_21067dup, NG_016432.1:g.21060_21067dup, NG_016432.1:g.21059_21067dup, NG_016432.1:g.21058_21067dup, NG_016432.1:g.21057_21067dup, NG_016432.1:g.21056_21067dup, NG_016432.1:g.21055_21067dup, NG_016432.1:g.21054_21067dup, NG_016432.1:g.21053_21067dup, NG_016432.1:g.21052_21067dup, NG_016432.1:g.21051_21067dup, NG_016432.1:g.21049_21067dup, NG_016432.1:g.21067_21068insTTTTTTTTTTTTTTTTTTTTTT, NG_016432.1:g.21067_21068insTTTTTTTTTTTTTTTTTTTTTTT, NG_016432.1:g.21067_21068insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909710337.

rs1490971033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57212167 (GRCh38)
19:57723535 (GRCh37)
Canonical SPDI:: NC_000019.10:57212166:A:G
Gene:: ZNF264 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57212167A>G, NC_000019.9:g.57723535A>G, NG_016432.1:g.25668A>G, NM_003417.5:c.1070A>G, NM_003417.4:c.1070A>G, XM_011527522.3:c.974A>G, XM_011527522.2:c.974A>G, XM_011527522.1:c.974A>G, XM_047439724.1:c.1070A>G, NP_003408.1:p.Tyr357Cys, XP_011525824.1:p.Tyr325Cys, XP_047295680.1:p.Tyr357Cys

Select item 14908575998.

rs1490857599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57212830 (GRCh38)
19:57724198 (GRCh37)
Canonical SPDI:: NC_000019.10:57212829:G:C
Gene:: ZNF264 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000102/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57212830G>C, NC_000019.9:g.57724198G>C, NG_016432.1:g.26331G>C, NM_003417.5:c.1733G>C, NM_003417.4:c.1733G>C, XM_011527522.3:c.1637G>C, XM_011527522.2:c.1637G>C, XM_011527522.1:c.1637G>C, XM_047439724.1:c.1733G>C, NP_003408.1:p.Ser578Thr, XP_011525824.1:p.Ser546Thr, XP_047295680.1:p.Ser578Thr

Select item 14908523889.

rs1490852388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57209689 (GRCh38)
19:57721057 (GRCh37)
Canonical SPDI:: NC_000019.10:57209688:A:G
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57209689A>G, NC_000019.9:g.57721057A>G, NG_016432.1:g.23190A>G

Select item 149057112110.

rs1490571121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57202321 (GRCh38)
19:57713689 (GRCh37)
Canonical SPDI:: NC_000019.10:57202320:A:G
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57202321A>G, NC_000019.9:g.57713689A>G, NG_016432.1:g.15822A>G

Select item 149050636411.

rs1490506364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57220135 (GRCh38)
19:57731503 (GRCh37)
Canonical SPDI:: NC_000019.10:57220134:C:T
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.57220135C>T, NC_000019.9:g.57731503C>T, NG_016432.1:g.33636C>T, NM_003417.5:c.*7154C>T, NM_003417.4:c.*7154C>T, XM_011527522.3:c.*7154C>T, XM_047439724.1:c.*7154C>T

Select item 149046672812.

rs1490466728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57216295 (GRCh38)
19:57727663 (GRCh37)
Canonical SPDI:: NC_000019.10:57216294:G:T
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.57216295G>T, NC_000019.9:g.57727663G>T, NG_016432.1:g.29796G>T, NM_003417.5:c.*3314G>T, NM_003417.4:c.*3314G>T, XM_011527522.3:c.*3314G>T, XM_011527522.2:c.*3314G>T, XM_047439724.1:c.*3314G>T

Select item 149025934713.

rs1490259347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57202197 (GRCh38)
19:57713565 (GRCh37)
Canonical SPDI:: NC_000019.10:57202196:G:A
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.57202197G>A, NC_000019.9:g.57713565G>A, NG_016432.1:g.15698G>A

Select item 149024511914.

rs1490245119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:57203231 (GRCh38)
19:57714599 (GRCh37)
Canonical SPDI:: NC_000019.10:57203230:C:G,NC_000019.10:57203230:C:T
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57203231C>G, NC_000019.10:g.57203231C>T, NC_000019.9:g.57714599C>G, NC_000019.9:g.57714599C>T, NG_016432.1:g.16732C>G, NG_016432.1:g.16732C>T

Select item 149015861615.

rs1490158616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57191377 (GRCh38)
19:57702745 (GRCh37)
Canonical SPDI:: NC_000019.10:57191376:T:C
Gene:: ZNF264 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57191377T>C, NC_000019.9:g.57702745T>C, NG_016432.1:g.4878T>C

Select item 149015052716.

rs1490150527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57217906 (GRCh38)
19:57729274 (GRCh37)
Canonical SPDI:: NC_000019.10:57217905:C:A
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.57217906C>A, NC_000019.9:g.57729274C>A, NG_016432.1:g.31407C>A, NM_003417.5:c.*4925C>A, NM_003417.4:c.*4925C>A, XM_011527522.3:c.*4925C>A, XM_047439724.1:c.*4925C>A

Select item 149013284717.

rs1490132847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57192962 (GRCh38)
19:57704330 (GRCh37)
Canonical SPDI:: NC_000019.10:57192961:C:G
Gene:: ZNF264 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.57192962C>G, NC_000019.9:g.57704330C>G, NG_016432.1:g.6463C>G

Select item 149001104618.

rs1490011046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:57217693 (GRCh38)
19:57729061 (GRCh37)
Canonical SPDI:: NC_000019.10:57217692:G:A,NC_000019.10:57217692:G:C
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.57217693G>A, NC_000019.10:g.57217693G>C, NC_000019.9:g.57729061G>A, NC_000019.9:g.57729061G>C, NG_016432.1:g.31194G>A, NG_016432.1:g.31194G>C, NM_003417.5:c.*4712G>A, NM_003417.5:c.*4712G>C, NM_003417.4:c.*4712G>A, NM_003417.4:c.*4712G>C, XM_011527522.3:c.*4712G>A, XM_011527522.3:c.*4712G>C, XM_047439724.1:c.*4712G>A, XM_047439724.1:c.*4712G>C

Select item 148999502219.

rs1489995022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57190085 (GRCh38)
19:57701453 (GRCh37)
Canonical SPDI:: NC_000019.10:57190084:G:A
Gene:: ZNF264 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57190085G>A, NC_000019.9:g.57701453G>A, NG_016432.1:g.3586G>A

Select item 148997481020.

rs1489974810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57216840 (GRCh38)
19:57728208 (GRCh37)
Canonical SPDI:: NC_000019.10:57216839:A:T
Gene:: ZNF264 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.013005/38 (KOREAN)
HGVS:: NC_000019.10:g.57216840A>T, NC_000019.9:g.57728208A>T, NG_016432.1:g.30341A>T, NM_003417.5:c.*3859A>T, NM_003417.4:c.*3859A>T, XM_011527522.3:c.*3859A>T, XM_047439724.1:c.*3859A>T

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