SNP Links for Gene (Select 10524) - SNP

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Select item 14913294031.

rs1491329403 has merged into rs34568886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:65716038 (GRCh38)
11:65483509 (GRCh37)
Canonical SPDI:: NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65716024:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4956/2482 (1000Genomes)
HGVS:: NC_000011.10:g.65716038_65716042del, NC_000011.10:g.65716039_65716042del, NC_000011.10:g.65716040_65716042del, NC_000011.10:g.65716041_65716042del, NC_000011.10:g.65716042del, NC_000011.10:g.65716042dup, NC_000011.10:g.65716041_65716042dup, NC_000011.10:g.65716040_65716042dup, NC_000011.10:g.65716039_65716042dup, NC_000011.10:g.65716035_65716042dup, NC_000011.9:g.65483509_65483513del, NC_000011.9:g.65483510_65483513del, NC_000011.9:g.65483511_65483513del, NC_000011.9:g.65483512_65483513del, NC_000011.9:g.65483513del, NC_000011.9:g.65483513dup, NC_000011.9:g.65483512_65483513dup, NC_000011.9:g.65483511_65483513dup, NC_000011.9:g.65483510_65483513dup, NC_000011.9:g.65483506_65483513dup, NG_008976.2:g.9910_9914del, NG_008976.2:g.9911_9914del, NG_008976.2:g.9912_9914del, NG_008976.2:g.9913_9914del, NG_008976.2:g.9914del, NG_008976.2:g.9914dup, NG_008976.2:g.9913_9914dup, NG_008976.2:g.9912_9914dup, NG_008976.2:g.9911_9914dup, NG_008976.2:g.9907_9914dup, NG_033057.1:g.9037_9041del, NG_033057.1:g.9038_9041del, NG_033057.1:g.9039_9041del, NG_033057.1:g.9040_9041del, NG_033057.1:g.9041del, NG_033057.1:g.9041dup, NG_033057.1:g.9040_9041dup, NG_033057.1:g.9039_9041dup, NG_033057.1:g.9038_9041dup, NG_033057.1:g.9034_9041dup

Select item 14911740662.

rs1491174066 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:65716024 (GRCh38)
11:65483495 (GRCh37)
Canonical SPDI:: NC_000011.10:65716023:CA:
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000011.10:g.65716024_65716025del, NC_000011.9:g.65483495_65483496del, NG_008976.2:g.9914_9915del, NG_033057.1:g.9023_9024del

Select item 14910540113.

rs1491054011 has merged into rs71036226 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:65711459 (GRCh38)
11:65478930 (GRCh37)
Canonical SPDI:: NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65711447:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KAT5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.65711459_65711472del, NC_000011.10:g.65711460_65711472del, NC_000011.10:g.65711461_65711472del, NC_000011.10:g.65711462_65711472del, NC_000011.10:g.65711463_65711472del, NC_000011.10:g.65711464_65711472del, NC_000011.10:g.65711465_65711472del, NC_000011.10:g.65711466_65711472del, NC_000011.10:g.65711467_65711472del, NC_000011.10:g.65711468_65711472del, NC_000011.10:g.65711469_65711472del, NC_000011.10:g.65711470_65711472del, NC_000011.10:g.65711471_65711472del, NC_000011.10:g.65711472del, NC_000011.10:g.65711472dup, NC_000011.10:g.65711471_65711472dup, NC_000011.10:g.65711470_65711472dup, NC_000011.10:g.65711469_65711472dup, NC_000011.10:g.65711468_65711472dup, NC_000011.10:g.65711467_65711472dup, NC_000011.10:g.65711466_65711472dup, NC_000011.10:g.65711464_65711472dup, NC_000011.10:g.65711461_65711472dup, NC_000011.9:g.65478930_65478943del, NC_000011.9:g.65478931_65478943del, NC_000011.9:g.65478932_65478943del, NC_000011.9:g.65478933_65478943del, NC_000011.9:g.65478934_65478943del, NC_000011.9:g.65478935_65478943del, NC_000011.9:g.65478936_65478943del, NC_000011.9:g.65478937_65478943del, NC_000011.9:g.65478938_65478943del, NC_000011.9:g.65478939_65478943del, NC_000011.9:g.65478940_65478943del, NC_000011.9:g.65478941_65478943del, NC_000011.9:g.65478942_65478943del, NC_000011.9:g.65478943del, NC_000011.9:g.65478943dup, NC_000011.9:g.65478942_65478943dup, NC_000011.9:g.65478941_65478943dup, NC_000011.9:g.65478940_65478943dup, NC_000011.9:g.65478939_65478943dup, NC_000011.9:g.65478938_65478943dup, NC_000011.9:g.65478937_65478943dup, NC_000011.9:g.65478935_65478943dup, NC_000011.9:g.65478932_65478943dup, NG_033057.1:g.4458_4471del, NG_033057.1:g.4459_4471del, NG_033057.1:g.4460_4471del, NG_033057.1:g.4461_4471del, NG_033057.1:g.4462_4471del, NG_033057.1:g.4463_4471del, NG_033057.1:g.4464_4471del, NG_033057.1:g.4465_4471del, NG_033057.1:g.4466_4471del, NG_033057.1:g.4467_4471del, NG_033057.1:g.4468_4471del, NG_033057.1:g.4469_4471del, NG_033057.1:g.4470_4471del, NG_033057.1:g.4471del, NG_033057.1:g.4471dup, NG_033057.1:g.4470_4471dup, NG_033057.1:g.4469_4471dup, NG_033057.1:g.4468_4471dup, NG_033057.1:g.4467_4471dup, NG_033057.1:g.4466_4471dup, NG_033057.1:g.4465_4471dup, NG_033057.1:g.4463_4471dup, NG_033057.1:g.4460_4471dup

Select item 14908619864.

rs1490861986 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:65716654 (GRCh38)
11:65484125 (GRCh37)
Canonical SPDI:: NC_000011.10:65716653:TTTT:TTT
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65716657del, NC_000011.9:g.65484128del, NG_008976.2:g.9285del, NG_033057.1:g.9656del

Select item 14908466115.

rs1490846611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65711923 (GRCh38)
11:65479394 (GRCh37)
Canonical SPDI:: NC_000011.10:65711922:G:A
Gene:: KAT5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.65711923G>A, NC_000011.9:g.65479394G>A, NG_033057.1:g.4922G>A

Select item 14907591416.

rs1490759141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65712295 (GRCh38)
11:65479766 (GRCh37)
Canonical SPDI:: NC_000011.10:65712294:G:C
Gene:: KAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65712295G>C, NC_000011.9:g.65479766G>C, NG_033057.1:g.5294G>C, NM_182710.3:c.28G>C, NM_182710.2:c.28G>C, NM_001206833.2:c.28G>C, NM_001206833.1:c.28G>C, XM_047426253.1:c.28G>C, NP_874369.1:p.Gly10Arg, NP_001193762.1:p.Gly10Arg, XP_047282209.1:p.Gly10Arg

Select item 14899448507.

rs1489944850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65714185 (GRCh38)
11:65481656 (GRCh37)
Canonical SPDI:: NC_000011.10:65714184:C:G
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65714185C>G, NC_000011.9:g.65481656C>G, NG_008976.2:g.11754G>C, NG_033057.1:g.7184C>G

Select item 14898179268.

rs1489817926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65715500 (GRCh38)
11:65482971 (GRCh37)
Canonical SPDI:: NC_000011.10:65715499:C:T
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000078/11 (GnomAD)
HGVS:: NC_000011.10:g.65715500C>T, NC_000011.9:g.65482971C>T, NG_008976.2:g.10439G>A, NG_033057.1:g.8499C>T

Select item 14897729609.

rs1489772960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65714273 (GRCh38)
11:65481744 (GRCh37)
Canonical SPDI:: NC_000011.10:65714272:C:T
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65714273C>T, NC_000011.9:g.65481744C>T, NG_008976.2:g.11666G>A, NG_033057.1:g.7272C>T

Select item 148960397410.

rs1489603974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65713361 (GRCh38)
11:65480832 (GRCh37)
Canonical SPDI:: NC_000011.10:65713360:A:G
Gene:: KAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65713361A>G, NC_000011.9:g.65480832A>G, NG_008976.2:g.12578T>C, NG_033057.1:g.6360A>G, NM_006388.4:c.299A>G, NM_006388.3:c.299A>G, NM_182710.3:c.398A>G, NM_182710.2:c.398A>G, XM_006718421.4:c.326A>G, XM_006718421.3:c.326A>G, XM_006718421.2:c.326A>G, XM_006718421.1:c.326A>G, XM_047426252.1:c.326A>G, NP_006379.2:p.Gln100Arg, NP_874369.1:p.Gln133Arg, XP_006718484.1:p.Gln109Arg, XP_047282208.1:p.Gln109Arg

Select item 148953500011.

rs1489535000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65717560 (GRCh38)
11:65485031 (GRCh37)
Canonical SPDI:: NC_000011.10:65717559:C:G
Gene:: KAT5 (Varview), RNASEH2C (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000011.10:g.65717560C>G, NC_000011.9:g.65485031C>G, NG_008976.2:g.8379G>C, NG_033057.1:g.10559C>G

Select item 148953238612.

rs1489532386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65710614 (GRCh38)
11:65478085 (GRCh37)
Canonical SPDI:: NC_000011.10:65710613:G:A
Gene:: KAT5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.65710614G>A, NC_000011.9:g.65478085G>A, NG_033057.1:g.3613G>A

Select item 148950790613.

rs1489507906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65711225 (GRCh38)
11:65478696 (GRCh37)
Canonical SPDI:: NC_000011.10:65711224:G:A
Gene:: KAT5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.65711225G>A, NC_000011.9:g.65478696G>A, NG_033057.1:g.4224G>A

Select item 148924175214.

rs1489241752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65716414 (GRCh38)
11:65483885 (GRCh37)
Canonical SPDI:: NC_000011.10:65716413:G:A
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.65716414G>A, NC_000011.9:g.65483885G>A, NG_008976.2:g.9525C>T, NG_033057.1:g.9413G>A

Select item 148885360715.

rs1488853607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65716214 (GRCh38)
11:65483685 (GRCh37)
Canonical SPDI:: NC_000011.10:65716213:T:C
Gene:: KAT5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65716214T>C, NC_000011.9:g.65483685T>C, NG_008976.2:g.9725A>G, NG_033057.1:g.9213T>C

Select item 148879596616.

rs1488795966 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTG>- [Show Flanks]
Chromosome:: 11:65719024 (GRCh38)
11:65486495 (GRCh37)
Canonical SPDI:: NC_000011.10:65719020:CTGCTG:CTG
Gene:: KAT5 (Varview), RNASEH2C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGCTG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65719021CTG[1], NC_000011.9:g.65486492CTG[1], NG_008976.2:g.6913CAG[1], NM_032193.4:c.*757CAG[1], NM_032193.3:c.*757CAG[1], NG_033057.1:g.12020CTG[1]

Select item 148847768217.

rs1488477682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65718228 (GRCh38)
11:65485699 (GRCh37)
Canonical SPDI:: NC_000011.10:65718227:C:T
Gene:: KAT5 (Varview), RNASEH2C (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.65718228C>T, NC_000011.9:g.65485699C>T, NG_008976.2:g.7711G>A, NM_032193.4:c.*1555G>A, NM_032193.3:c.*1555G>A, NG_033057.1:g.11227C>T

Select item 148839351018.

rs1488393510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65718406 (GRCh38)
11:65485877 (GRCh37)
Canonical SPDI:: NC_000011.10:65718405:G:A
Gene:: KAT5 (Varview), RNASEH2C (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000011.10:g.65718406G>A, NC_000011.9:g.65485877G>A, NG_008976.2:g.7533C>T, NM_032193.4:c.*1377C>T, NM_032193.3:c.*1377C>T, NG_033057.1:g.11405G>A

Select item 148774741219.

rs1487747412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65712242 (GRCh38)
11:65479713 (GRCh37)
Canonical SPDI:: NC_000011.10:65712241:C:A
Gene:: KAT5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65712242C>A, NC_000011.9:g.65479713C>A, NG_033057.1:g.5241C>A, NM_006388.3:c.-26C>A, NM_182710.2:c.-26C>A, NM_182709.2:c.-26C>A, NM_001206833.1:c.-26C>A, XM_047426253.1:c.-26C>A

Select item 148765487320.

rs1487654873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65711577 (GRCh38)
11:65479048 (GRCh37)
Canonical SPDI:: NC_000011.10:65711576:C:G
Gene:: KAT5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65711577C>G, NC_000011.9:g.65479048C>G, NG_033057.1:g.4576C>G

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