SNP Links for Gene (Select 256880) - SNP

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Select item 14914713691.

rs1491471369 has merged into rs35634162 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:100016592 (GRCh38)
4:100937749 (GRCh37)
Canonical SPDI:: NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:100016578:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.24381/1221 (1000Genomes)
HGVS:: NC_000004.12:g.100016592_100016595del, NC_000004.12:g.100016593_100016595del, NC_000004.12:g.100016594_100016595del, NC_000004.12:g.100016595del, NC_000004.12:g.100016595dup, NC_000004.12:g.100016594_100016595dup, NC_000004.12:g.100016593_100016595dup, NC_000004.12:g.100016592_100016595dup, NC_000004.12:g.100016586_100016595dup, NC_000004.11:g.100937749_100937752del, NC_000004.11:g.100937750_100937752del, NC_000004.11:g.100937751_100937752del, NC_000004.11:g.100937752del, NC_000004.11:g.100937752dup, NC_000004.11:g.100937751_100937752dup, NC_000004.11:g.100937750_100937752dup, NC_000004.11:g.100937749_100937752dup, NC_000004.11:g.100937743_100937752dup

Select item 14913183302.

rs1491318330 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:100000524 (GRCh38)
4:100921681 (GRCh37)
Canonical SPDI:: NC_000004.12:100000523:AT:
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000032/4 (GnomAD)
HGVS:: NC_000004.12:g.100000524_100000525del, NC_000004.11:g.100921681_100921682del

Select item 14913083783.

rs1491308378 has merged into rs11338040 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:99961437 (GRCh38)
4:100882594 (GRCh37)
Canonical SPDI:: NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:99961426:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.399561/2001 (1000Genomes)
HGVS:: NC_000004.12:g.99961437_99961444del, NC_000004.12:g.99961438_99961444del, NC_000004.12:g.99961440_99961444del, NC_000004.12:g.99961441_99961444del, NC_000004.12:g.99961442_99961444del, NC_000004.12:g.99961443_99961444del, NC_000004.12:g.99961444del, NC_000004.12:g.99961444dup, NC_000004.12:g.99961427_99961444T[19]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.99961443_99961444dup, NC_000004.12:g.99961442_99961444dup, NC_000004.12:g.99961441_99961444dup, NC_000004.12:g.99961440_99961444dup, NC_000004.12:g.99961439_99961444dup, NC_000004.12:g.99961438_99961444dup, NC_000004.12:g.99961437_99961444dup, NC_000004.12:g.99961436_99961444dup, NC_000004.12:g.99961435_99961444dup, NC_000004.12:g.99961434_99961444dup, NC_000004.12:g.99961433_99961444dup, NC_000004.12:g.99961432_99961444dup, NC_000004.12:g.99961431_99961444dup, NC_000004.12:g.99961430_99961444dup, NC_000004.12:g.99961429_99961444dup, NC_000004.12:g.99961428_99961444dup, NC_000004.11:g.100882594_100882601del, NC_000004.11:g.100882595_100882601del, NC_000004.11:g.100882597_100882601del, NC_000004.11:g.100882598_100882601del, NC_000004.11:g.100882599_100882601del, NC_000004.11:g.100882600_100882601del, NC_000004.11:g.100882601del, NC_000004.11:g.100882601dup, NC_000004.11:g.100882584_100882601T[19]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.100882600_100882601dup, NC_000004.11:g.100882599_100882601dup, NC_000004.11:g.100882598_100882601dup, NC_000004.11:g.100882597_100882601dup, NC_000004.11:g.100882596_100882601dup, NC_000004.11:g.100882595_100882601dup, NC_000004.11:g.100882594_100882601dup, NC_000004.11:g.100882593_100882601dup, NC_000004.11:g.100882592_100882601dup, NC_000004.11:g.100882591_100882601dup, NC_000004.11:g.100882590_100882601dup, NC_000004.11:g.100882589_100882601dup, NC_000004.11:g.100882588_100882601dup, NC_000004.11:g.100882587_100882601dup, NC_000004.11:g.100882586_100882601dup, NC_000004.11:g.100882585_100882601dup

Select item 14912806974.

rs1491280697 has merged into rs57068874 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:99986186 (GRCh38)
4:100907343 (GRCh37)
Canonical SPDI:: NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:99986175:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.99986186_99986194del, NC_000004.12:g.99986187_99986194del, NC_000004.12:g.99986189_99986194del, NC_000004.12:g.99986191_99986194del, NC_000004.12:g.99986192_99986194del, NC_000004.12:g.99986193_99986194del, NC_000004.12:g.99986194del, NC_000004.12:g.99986194dup, NC_000004.12:g.99986193_99986194dup, NC_000004.12:g.99986192_99986194dup, NC_000004.12:g.99986191_99986194dup, NC_000004.11:g.100907343_100907351del, NC_000004.11:g.100907344_100907351del, NC_000004.11:g.100907346_100907351del, NC_000004.11:g.100907348_100907351del, NC_000004.11:g.100907349_100907351del, NC_000004.11:g.100907350_100907351del, NC_000004.11:g.100907351del, NC_000004.11:g.100907351dup, NC_000004.11:g.100907350_100907351dup, NC_000004.11:g.100907349_100907351dup, NC_000004.11:g.100907348_100907351dup

Select item 14911501735.

rs1491150173 has merged into rs57329597 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:100021270 (GRCh38)
4:100942427 (GRCh37)
Canonical SPDI:: NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:100021262:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.100021264GT[3], NC_000004.12:g.100021264GT[7], NC_000004.12:g.100021264GT[8], NC_000004.12:g.100021264GT[9], NC_000004.12:g.100021264GT[10], NC_000004.12:g.100021264GT[11], NC_000004.12:g.100021264GT[12], NC_000004.12:g.100021264GT[14], NC_000004.12:g.100021264GT[15], NC_000004.12:g.100021264GT[16], NC_000004.12:g.100021264GT[17], NC_000004.12:g.100021264GT[18], NC_000004.12:g.100021264GT[19], NC_000004.12:g.100021264GT[21], NC_000004.11:g.100942421GT[3], NC_000004.11:g.100942421GT[7], NC_000004.11:g.100942421GT[8], NC_000004.11:g.100942421GT[9], NC_000004.11:g.100942421GT[10], NC_000004.11:g.100942421GT[11], NC_000004.11:g.100942421GT[12], NC_000004.11:g.100942421GT[14], NC_000004.11:g.100942421GT[15], NC_000004.11:g.100942421GT[16], NC_000004.11:g.100942421GT[17], NC_000004.11:g.100942421GT[18], NC_000004.11:g.100942421GT[19], NC_000004.11:g.100942421GT[21]

Select item 14911354986.

rs1491135498 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:99986176 (GRCh38)
4:100907334 (GRCh37)
Canonical SPDI:: NC_000004.12:99986176::G
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/1 (GnomAD)
HGVS:: NC_000004.12:g.99986176_99986177insG, NC_000004.11:g.100907333_100907334insG

Select item 14911343107.

rs1491134310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:99948531 (GRCh38)
4:100869688 (GRCh37)
Canonical SPDI:: NC_000004.12:99948527:GAGAG:GAG
Gene:: H2AZ1 (Varview), DNAJB14 (Varview), H2AZ1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.99948529AG[1], NC_000004.11:g.100869686AG[1]

Select item 14910100338.

rs1491010033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:100019290 (GRCh38)
4:100940447 (GRCh37)
Canonical SPDI:: NC_000004.12:100019288:TAT:T
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.100019290_100019291del, NC_000004.11:g.100940447_100940448del

Select item 14909840399.

rs1490984039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99998281 (GRCh38)
4:100919438 (GRCh37)
Canonical SPDI:: NC_000004.12:99998280:C:T
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000004.12:g.99998281C>T, NC_000004.11:g.100919438C>T

Select item 149097995510.

rs1490979955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99963840 (GRCh38)
4:100884997 (GRCh37)
Canonical SPDI:: NC_000004.12:99963839:A:G
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.99963840A>G, NC_000004.11:g.100884997A>G

Select item 149097198011.

rs1490971980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:100001849 (GRCh38)
4:100923006 (GRCh37)
Canonical SPDI:: NC_000004.12:100001848:T:C
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000072/19 (TOPMED)
C=0.000084/11 (GnomAD)
C=0.000468/3 (1000Genomes)
HGVS:: NC_000004.12:g.100001849T>C, NC_000004.11:g.100923006T>C

Select item 149088791712.

rs1490887917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99955654 (GRCh38)
4:100876811 (GRCh37)
Canonical SPDI:: NC_000004.12:99955653:A:G
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.99955654A>G, NC_000004.11:g.100876811A>G

Select item 149085645613.

rs1490856456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99956503 (GRCh38)
4:100877660 (GRCh37)
Canonical SPDI:: NC_000004.12:99956502:T:C
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.99956503T>C, NC_000004.11:g.100877660T>C

Select item 149074788014.

rs1490747880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99963975 (GRCh38)
4:100885132 (GRCh37)
Canonical SPDI:: NC_000004.12:99963974:C:T
Gene:: H2AZ1-DT (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)
HGVS:: NC_000004.12:g.99963975C>T, NC_000004.11:g.100885132C>T

Select item 149074603115.

rs1490746031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:100011740 (GRCh38)
4:100932897 (GRCh37)
Canonical SPDI:: NC_000004.12:100011739:G:C
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.100011740G>C, NC_000004.11:g.100932897G>C

Select item 149073041416.

rs1490730414 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:99980866 (GRCh38)
4:100902023 (GRCh37)
Canonical SPDI:: NC_000004.12:99980865:A:
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.99980866del, NC_000004.11:g.100902023del

Select item 149067527517.

rs1490675275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:100005746 (GRCh38)
4:100926903 (GRCh37)
Canonical SPDI:: NC_000004.12:100005745:A:T
Gene:: H2AZ1-DT (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)
HGVS:: NC_000004.12:g.100005746A>T, NC_000004.11:g.100926903A>T

Select item 149062430818.

rs1490624308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:100005122 (GRCh38)
4:100926279 (GRCh37)
Canonical SPDI:: NC_000004.12:100005121:T:C
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.100005122T>C, NC_000004.11:g.100926279T>C

Select item 149060771819.

rs1490607718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:99981706 (GRCh38)
4:100902863 (GRCh37)
Canonical SPDI:: NC_000004.12:99981705:A:C,NC_000004.12:99981705:A:G
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.99981706A>C, NC_000004.12:g.99981706A>G, NC_000004.11:g.100902863A>C, NC_000004.11:g.100902863A>G

Select item 149049740320.

rs1490497403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:100019619 (GRCh38)
4:100940776 (GRCh37)
Canonical SPDI:: NC_000004.12:100019618:A:G
Gene:: H2AZ1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.100019619A>G, NC_000004.11:g.100940776A>G

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