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Select item 14915125601.

rs1491512560 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:55165022 (GRCh38)
19:55676391 (GRCh37)
Canonical SPDI:: NC_000019.10:55165022::C
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00495/201 (GnomAD)
HGVS:: NC_000019.10:g.55165022_55165023insC, NC_000019.9:g.55676390_55676391insC, NG_032759.1:g.6700_6701insG

Select item 14915053982.

rs1491505398 has merged into rs1164581047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:55165030 (GRCh38)
19:55676398 (GRCh37)
Canonical SPDI:: NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.55165030_55165047del, NC_000019.10:g.55165034_55165047del, NC_000019.10:g.55165035_55165047del, NC_000019.10:g.55165036_55165047del, NC_000019.10:g.55165037_55165047del, NC_000019.10:g.55165038_55165047del, NC_000019.10:g.55165039_55165047del, NC_000019.10:g.55165040_55165047del, NC_000019.10:g.55165041_55165047del, NC_000019.10:g.55165042_55165047del, NC_000019.10:g.55165043_55165047del, NC_000019.10:g.55165044_55165047del, NC_000019.10:g.55165045_55165047del, NC_000019.10:g.55165046_55165047del, NC_000019.10:g.55165047del, NC_000019.10:g.55165047dup, NC_000019.10:g.55165046_55165047dup, NC_000019.10:g.55165045_55165047dup, NC_000019.10:g.55165044_55165047dup, NC_000019.10:g.55165043_55165047dup, NC_000019.10:g.55165042_55165047dup, NC_000019.10:g.55165041_55165047dup, NC_000019.9:g.55676398_55676415del, NC_000019.9:g.55676402_55676415del, NC_000019.9:g.55676403_55676415del, NC_000019.9:g.55676404_55676415del, NC_000019.9:g.55676405_55676415del, NC_000019.9:g.55676406_55676415del, NC_000019.9:g.55676407_55676415del, NC_000019.9:g.55676408_55676415del, NC_000019.9:g.55676409_55676415del, NC_000019.9:g.55676410_55676415del, NC_000019.9:g.55676411_55676415del, NC_000019.9:g.55676412_55676415del, NC_000019.9:g.55676413_55676415del, NC_000019.9:g.55676414_55676415del, NC_000019.9:g.55676415del, NC_000019.9:g.55676415dup, NC_000019.9:g.55676414_55676415dup, NC_000019.9:g.55676413_55676415dup, NC_000019.9:g.55676412_55676415dup, NC_000019.9:g.55676411_55676415dup, NC_000019.9:g.55676410_55676415dup, NC_000019.9:g.55676409_55676415dup, NG_032759.1:g.6684_6701del, NG_032759.1:g.6688_6701del, NG_032759.1:g.6689_6701del, NG_032759.1:g.6690_6701del, NG_032759.1:g.6691_6701del, NG_032759.1:g.6692_6701del, NG_032759.1:g.6693_6701del, NG_032759.1:g.6694_6701del, NG_032759.1:g.6695_6701del, NG_032759.1:g.6696_6701del, NG_032759.1:g.6697_6701del, NG_032759.1:g.6698_6701del, NG_032759.1:g.6699_6701del, NG_032759.1:g.6700_6701del, NG_032759.1:g.6701del, NG_032759.1:g.6701dup, NG_032759.1:g.6700_6701dup, NG_032759.1:g.6699_6701dup, NG_032759.1:g.6698_6701dup, NG_032759.1:g.6697_6701dup, NG_032759.1:g.6696_6701dup, NG_032759.1:g.6695_6701dup

Select item 14912724423.

rs1491272442 has merged into rs57384001 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 19:55168267 (GRCh38)
19:55679635 (GRCh37)
Canonical SPDI:: NC_000019.10:55168258:TATATATATATATATA:TATATATA,NC_000019.10:55168258:TATATATATATATATA:TATATATATATA,NC_000019.10:55168258:TATATATATATATATA:TATATATATATATA,NC_000019.10:55168258:TATATATATATATATA:TATATATATATATATATA,NC_000019.10:55168258:TATATATATATATATA:TATATATATATATATATATA,NC_000019.10:55168258:TATATATATATATATA:TATATATATATATATATATATA
Gene:: DNAAF3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
TA=0.0217/41 (1000Genomes)
HGVS:: NC_000019.10:g.55168259TA[4], NC_000019.10:g.55168259TA[6], NC_000019.10:g.55168259TA[7], NC_000019.10:g.55168259TA[9], NC_000019.10:g.55168259TA[10], NC_000019.10:g.55168259TA[11], NC_000019.9:g.55679627TA[4], NC_000019.9:g.55679627TA[6], NC_000019.9:g.55679627TA[7], NC_000019.9:g.55679627TA[9], NC_000019.9:g.55679627TA[10], NC_000019.9:g.55679627TA[11], NG_032759.1:g.3449TA[4], NG_032759.1:g.3449TA[6], NG_032759.1:g.3449TA[7], NG_032759.1:g.3449TA[9], NG_032759.1:g.3449TA[10], NG_032759.1:g.3449TA[11]

Select item 14912530094.

rs1491253009 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATATATATATATATATATATG,TATATATATATG,TATATATATG,TATATATG,TATATG,TC,TG [Show Flanks]
Chromosome:: 19:55168407 (GRCh38)
19:55679776 (GRCh37)
Canonical SPDI:: NC_000019.10:55168407::TATATATATATATATATATATATATG,NC_000019.10:55168407::TATATATATATG,NC_000019.10:55168407::TATATATATG,NC_000019.10:55168407::TATATATG,NC_000019.10:55168407::TATATG,NC_000019.10:55168407::TC,NC_000019.10:55168407::TG
Gene:: DNAAF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATG=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TC=0.002304/65 (TOMMO)
HGVS:: NC_000019.10:g.55168407_55168408insTATATATATATATATATATATATATG, NC_000019.10:g.55168407_55168408insTATATATATATG, NC_000019.10:g.55168407_55168408insTATATATATG, NC_000019.10:g.55168407_55168408insTATATATG, NC_000019.10:g.55168407_55168408insTATATG, NC_000019.10:g.55168407_55168408insTC, NC_000019.10:g.55168407_55168408insTG, NC_000019.9:g.55679775_55679776insTATATATATATATATATATATATATG, NC_000019.9:g.55679775_55679776insTATATATATATG, NC_000019.9:g.55679775_55679776insTATATATATG, NC_000019.9:g.55679775_55679776insTATATATG, NC_000019.9:g.55679775_55679776insTATATG, NC_000019.9:g.55679775_55679776insTC, NC_000019.9:g.55679775_55679776insTG, NG_032759.1:g.3315_3316insCATATATATATATATATATATATATA, NG_032759.1:g.3315_3316insCATATATATATA, NG_032759.1:g.3315_3316insCATATATATA, NG_032759.1:g.3315_3316insCATATATA, NG_032759.1:g.3315_3316insCATATA, NG_032759.1:g.3315_3316insGA, NG_032759.1:g.3315_3316insCA

Select item 14911512145.

rs1491151214 has merged into rs1555870588 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 19:55168421 (GRCh38)
19:55679789 (GRCh37)
Canonical SPDI:: NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:55168406:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: DNAAF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAG=0./0 (ALFA)
AGAG=0.13425/3787 (TOMMO)
HGVS:: NC_000019.10:g.55168407AG[7], NC_000019.10:g.55168407AG[8], NC_000019.10:g.55168407AG[9], NC_000019.10:g.55168407AG[10], NC_000019.10:g.55168407AG[11], NC_000019.10:g.55168407AG[12], NC_000019.10:g.55168407AG[13], NC_000019.10:g.55168407AG[14], NC_000019.10:g.55168407AG[15], NC_000019.10:g.55168407AG[16], NC_000019.10:g.55168407AG[18], NC_000019.10:g.55168407AG[19], NC_000019.10:g.55168407AG[20], NC_000019.10:g.55168407AG[21], NC_000019.10:g.55168407AG[22], NC_000019.10:g.55168407AG[23], NC_000019.10:g.55168407AG[24], NC_000019.10:g.55168407AG[25], NC_000019.10:g.55168407AG[26], NC_000019.10:g.55168407AG[27], NC_000019.10:g.55168407AG[28], NC_000019.10:g.55168407AG[29], NC_000019.10:g.55168407AG[30], NC_000019.10:g.55168407AG[31], NC_000019.9:g.55679775AG[7], NC_000019.9:g.55679775AG[8], NC_000019.9:g.55679775AG[9], NC_000019.9:g.55679775AG[10], NC_000019.9:g.55679775AG[11], NC_000019.9:g.55679775AG[12], NC_000019.9:g.55679775AG[13], NC_000019.9:g.55679775AG[14], NC_000019.9:g.55679775AG[15], NC_000019.9:g.55679775AG[16], NC_000019.9:g.55679775AG[18], NC_000019.9:g.55679775AG[19], NC_000019.9:g.55679775AG[20], NC_000019.9:g.55679775AG[21], NC_000019.9:g.55679775AG[22], NC_000019.9:g.55679775AG[23], NC_000019.9:g.55679775AG[24], NC_000019.9:g.55679775AG[25], NC_000019.9:g.55679775AG[26], NC_000019.9:g.55679775AG[27], NC_000019.9:g.55679775AG[28], NC_000019.9:g.55679775AG[29], NC_000019.9:g.55679775AG[30], NC_000019.9:g.55679775AG[31], NG_032759.1:g.3283CT[7], NG_032759.1:g.3283CT[8], NG_032759.1:g.3283CT[9], NG_032759.1:g.3283CT[10], NG_032759.1:g.3283CT[11], NG_032759.1:g.3283CT[12], NG_032759.1:g.3283CT[13], NG_032759.1:g.3283CT[14], NG_032759.1:g.3283CT[15], NG_032759.1:g.3283CT[16], NG_032759.1:g.3283CT[18], NG_032759.1:g.3283CT[19], NG_032759.1:g.3283CT[20], NG_032759.1:g.3283CT[21], NG_032759.1:g.3283CT[22], NG_032759.1:g.3283CT[23], NG_032759.1:g.3283CT[24], NG_032759.1:g.3283CT[25], NG_032759.1:g.3283CT[26], NG_032759.1:g.3283CT[27], NG_032759.1:g.3283CT[28], NG_032759.1:g.3283CT[29], NG_032759.1:g.3283CT[30], NG_032759.1:g.3283CT[31]

Select item 14908676906.

rs1490867690 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,TTTTCG [Show Flanks]
Chromosome:: 19:55166607 (GRCh38)
19:55677976 (GRCh37)
Canonical SPDI:: NC_000019.10:55166607::G,NC_000019.10:55166607::TTTTCG
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview), LOC124904795 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,inframe_insertion,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55166607_55166608insG, NC_000019.10:g.55166607_55166608insTTTTCG, NC_000019.9:g.55677975_55677976insG, NC_000019.9:g.55677975_55677976insTTTTCG, NG_032759.1:g.5115_5116insC, NG_032759.1:g.5115_5116insCGAAAA, NM_178837.4:c.41_42insC, NM_178837.4:c.41_42insCGAAAA, NM_001256716.2:c.-339_-338insC, NM_001256716.2:c.-339_-338insCGAAAA, NM_001256716.1:c.-339_-338insC, NM_001256716.1:c.-339_-338insCGAAAA, NM_001256715.2:c.-90_-89insC, NM_001256715.2:c.-90_-89insCGAAAA, NM_001256715.1:c.-90_-89insC, NM_001256715.1:c.-90_-89insCGAAAA, NM_001256714.1:c.41_42insC, NM_001256714.1:c.41_42insCGAAAA, NM_001031802.1:c.41_42insC, NM_001031802.1:c.41_42insCGAAAA, XR_007067345.1:n.1352_1353insG, XR_007067345.1:n.1352_1353insTTTTCG, XR_007067344.1:n.1145_1146insG, XR_007067344.1:n.1145_1146insTTTTCG, NP_849159.2:p.Ser16fs, NP_849159.2:p.Gly15_Ser16insGluLys, NP_001243643.1:p.Ser16fs, NP_001243643.1:p.Gly15_Ser16insGluLys

Select item 14906102877.

rs1490610287 has merged into rs576178532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:55163009 (GRCh38)
19:55674377 (GRCh37)
Canonical SPDI:: NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55162997:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.55163009_55163027del, NC_000019.10:g.55163011_55163027del, NC_000019.10:g.55163012_55163027del, NC_000019.10:g.55163013_55163027del, NC_000019.10:g.55163014_55163027del, NC_000019.10:g.55163015_55163027del, NC_000019.10:g.55163016_55163027del, NC_000019.10:g.55163017_55163027del, NC_000019.10:g.55163018_55163027del, NC_000019.10:g.55163019_55163027del, NC_000019.10:g.55163020_55163027del, NC_000019.10:g.55163021_55163027del, NC_000019.10:g.55163022_55163027del, NC_000019.10:g.55163023_55163027del, NC_000019.10:g.55163024_55163027del, NC_000019.10:g.55163025_55163027del, NC_000019.10:g.55163026_55163027del, NC_000019.10:g.55163027del, NC_000019.10:g.55163027dup, NC_000019.10:g.55163026_55163027dup, NC_000019.10:g.55163025_55163027dup, NC_000019.10:g.55163024_55163027dup, NC_000019.10:g.55163023_55163027dup, NC_000019.10:g.55163022_55163027dup, NC_000019.10:g.55163021_55163027dup, NC_000019.10:g.55162998_55163027T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.55163020_55163027dup, NC_000019.10:g.55163019_55163027dup, NC_000019.10:g.55163018_55163027dup, NC_000019.10:g.55163017_55163027dup, NC_000019.10:g.55163016_55163027dup, NC_000019.10:g.55163015_55163027dup, NC_000019.10:g.55163014_55163027dup, NC_000019.10:g.55163013_55163027dup, NC_000019.10:g.55163012_55163027dup, NC_000019.10:g.55163011_55163027dup, NC_000019.10:g.55163010_55163027dup, NC_000019.10:g.55163009_55163027dup, NC_000019.10:g.55163008_55163027dup, NC_000019.10:g.55163007_55163027dup, NC_000019.10:g.55163004_55163027dup, NC_000019.10:g.55163003_55163027dup, NC_000019.10:g.55162999_55163027dup, NC_000019.10:g.55162998_55163027dup, NC_000019.10:g.55163027_55163028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.55163027_55163028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.55163027_55163028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.55163027_55163028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.55674377_55674395del, NC_000019.9:g.55674379_55674395del, NC_000019.9:g.55674380_55674395del, NC_000019.9:g.55674381_55674395del, NC_000019.9:g.55674382_55674395del, NC_000019.9:g.55674383_55674395del, NC_000019.9:g.55674384_55674395del, NC_000019.9:g.55674385_55674395del, NC_000019.9:g.55674386_55674395del, NC_000019.9:g.55674387_55674395del, NC_000019.9:g.55674388_55674395del, NC_000019.9:g.55674389_55674395del, NC_000019.9:g.55674390_55674395del, NC_000019.9:g.55674391_55674395del, NC_000019.9:g.55674392_55674395del, NC_000019.9:g.55674393_55674395del, NC_000019.9:g.55674394_55674395del, NC_000019.9:g.55674395del, NC_000019.9:g.55674395dup, NC_000019.9:g.55674394_55674395dup, NC_000019.9:g.55674393_55674395dup, NC_000019.9:g.55674392_55674395dup, NC_000019.9:g.55674391_55674395dup, NC_000019.9:g.55674390_55674395dup, NC_000019.9:g.55674389_55674395dup, NC_000019.9:g.55674366_55674395T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.55674388_55674395dup, NC_000019.9:g.55674387_55674395dup, NC_000019.9:g.55674386_55674395dup, NC_000019.9:g.55674385_55674395dup, NC_000019.9:g.55674384_55674395dup, NC_000019.9:g.55674383_55674395dup, NC_000019.9:g.55674382_55674395dup, NC_000019.9:g.55674381_55674395dup, NC_000019.9:g.55674380_55674395dup, NC_000019.9:g.55674379_55674395dup, NC_000019.9:g.55674378_55674395dup, NC_000019.9:g.55674377_55674395dup, NC_000019.9:g.55674376_55674395dup, NC_000019.9:g.55674375_55674395dup, NC_000019.9:g.55674372_55674395dup, NC_000019.9:g.55674371_55674395dup, NC_000019.9:g.55674367_55674395dup, NC_000019.9:g.55674366_55674395dup, NC_000019.9:g.55674395_55674396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.55674395_55674396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.55674395_55674396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.55674395_55674396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032759.1:g.8707_8725del, NG_032759.1:g.8709_8725del, NG_032759.1:g.8710_8725del, NG_032759.1:g.8711_8725del, NG_032759.1:g.8712_8725del, NG_032759.1:g.8713_8725del, NG_032759.1:g.8714_8725del, NG_032759.1:g.8715_8725del, NG_032759.1:g.8716_8725del, NG_032759.1:g.8717_8725del, NG_032759.1:g.8718_8725del, NG_032759.1:g.8719_8725del, NG_032759.1:g.8720_8725del, NG_032759.1:g.8721_8725del, NG_032759.1:g.8722_8725del, NG_032759.1:g.8723_8725del, NG_032759.1:g.8724_8725del, NG_032759.1:g.8725del, NG_032759.1:g.8725dup, NG_032759.1:g.8724_8725dup, NG_032759.1:g.8723_8725dup, NG_032759.1:g.8722_8725dup, NG_032759.1:g.8721_8725dup, NG_032759.1:g.8720_8725dup, NG_032759.1:g.8719_8725dup, NG_032759.1:g.8696_8725A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032759.1:g.8718_8725dup, NG_032759.1:g.8717_8725dup, NG_032759.1:g.8716_8725dup, NG_032759.1:g.8715_8725dup, NG_032759.1:g.8714_8725dup, NG_032759.1:g.8713_8725dup, NG_032759.1:g.8712_8725dup, NG_032759.1:g.8711_8725dup, NG_032759.1:g.8710_8725dup, NG_032759.1:g.8709_8725dup, NG_032759.1:g.8708_8725dup, NG_032759.1:g.8707_8725dup, NG_032759.1:g.8706_8725dup, NG_032759.1:g.8705_8725dup, NG_032759.1:g.8702_8725dup, NG_032759.1:g.8701_8725dup, NG_032759.1:g.8697_8725dup, NG_032759.1:g.8696_8725dup, NG_032759.1:g.8725_8726insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032759.1:g.8725_8726insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032759.1:g.8725_8726insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032759.1:g.8725_8726insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14899976048.

rs1489997604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATATA [Show Flanks]
Chromosome:: 19:55168390 (GRCh38)
19:55679759 (GRCh37)
Canonical SPDI:: NC_000019.10:55168390:ATATATATATA:ATATATATATACATATATATATA
Gene:: DNAAF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATACATATATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.55168391_55168401AT[5]ACATATATATATA[1], NC_000019.9:g.55679759_55679769AT[5]ACATATATATATA[1], NG_032759.1:g.3322_3332TA[5]TGTATATATATAT[1]

Select item 14899774699.

rs1489977469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55168674 (GRCh38)
19:55680042 (GRCh37)
Canonical SPDI:: NC_000019.10:55168673:A:G
Gene:: DNAAF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55168674A>G, NC_000019.9:g.55680042A>G, NG_032759.1:g.3049T>C

Select item 148946686110.

rs1489466861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:55161736 (GRCh38)
19:55673104 (GRCh37)
Canonical SPDI:: NC_000019.10:55161735:C:A,NC_000019.10:55161735:C:G
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55161736C>A, NC_000019.10:g.55161736C>G, NC_000019.9:g.55673104C>A, NC_000019.9:g.55673104C>G, NG_007866.2:g.997G>T, NG_007866.2:g.997G>C, NG_032759.1:g.9987G>T, NG_032759.1:g.9987G>C, NM_178837.4:c.711G>T, NM_178837.4:c.711G>C, NM_001256716.2:c.408G>T, NM_001256716.2:c.408G>C, NM_001256716.1:c.408G>T, NM_001256716.1:c.408G>C, NM_001256715.2:c.570G>T, NM_001256715.2:c.570G>C, NM_001256715.1:c.570G>T, NM_001256715.1:c.570G>C, NM_001256714.1:c.774G>T, NM_001256714.1:c.774G>C, NM_001031802.1:c.*358G>T, NM_001031802.1:c.*358G>C, NP_849159.2:p.Trp237Cys, NP_849159.2:p.Trp237Cys, NP_001243645.1:p.Trp136Cys, NP_001243645.1:p.Trp136Cys, NP_001243644.1:p.Trp190Cys, NP_001243644.1:p.Trp190Cys, NP_001243643.1:p.Trp258Cys, NP_001243643.1:p.Trp258Cys

Select item 148945625611.

rs1489456256 has merged into rs1164581047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:55165030 (GRCh38)
19:55676398 (GRCh37)
Canonical SPDI:: NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:55165021:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.55165030_55165047del, NC_000019.10:g.55165034_55165047del, NC_000019.10:g.55165035_55165047del, NC_000019.10:g.55165036_55165047del, NC_000019.10:g.55165037_55165047del, NC_000019.10:g.55165038_55165047del, NC_000019.10:g.55165039_55165047del, NC_000019.10:g.55165040_55165047del, NC_000019.10:g.55165041_55165047del, NC_000019.10:g.55165042_55165047del, NC_000019.10:g.55165043_55165047del, NC_000019.10:g.55165044_55165047del, NC_000019.10:g.55165045_55165047del, NC_000019.10:g.55165046_55165047del, NC_000019.10:g.55165047del, NC_000019.10:g.55165047dup, NC_000019.10:g.55165046_55165047dup, NC_000019.10:g.55165045_55165047dup, NC_000019.10:g.55165044_55165047dup, NC_000019.10:g.55165043_55165047dup, NC_000019.10:g.55165042_55165047dup, NC_000019.10:g.55165041_55165047dup, NC_000019.9:g.55676398_55676415del, NC_000019.9:g.55676402_55676415del, NC_000019.9:g.55676403_55676415del, NC_000019.9:g.55676404_55676415del, NC_000019.9:g.55676405_55676415del, NC_000019.9:g.55676406_55676415del, NC_000019.9:g.55676407_55676415del, NC_000019.9:g.55676408_55676415del, NC_000019.9:g.55676409_55676415del, NC_000019.9:g.55676410_55676415del, NC_000019.9:g.55676411_55676415del, NC_000019.9:g.55676412_55676415del, NC_000019.9:g.55676413_55676415del, NC_000019.9:g.55676414_55676415del, NC_000019.9:g.55676415del, NC_000019.9:g.55676415dup, NC_000019.9:g.55676414_55676415dup, NC_000019.9:g.55676413_55676415dup, NC_000019.9:g.55676412_55676415dup, NC_000019.9:g.55676411_55676415dup, NC_000019.9:g.55676410_55676415dup, NC_000019.9:g.55676409_55676415dup, NG_032759.1:g.6684_6701del, NG_032759.1:g.6688_6701del, NG_032759.1:g.6689_6701del, NG_032759.1:g.6690_6701del, NG_032759.1:g.6691_6701del, NG_032759.1:g.6692_6701del, NG_032759.1:g.6693_6701del, NG_032759.1:g.6694_6701del, NG_032759.1:g.6695_6701del, NG_032759.1:g.6696_6701del, NG_032759.1:g.6697_6701del, NG_032759.1:g.6698_6701del, NG_032759.1:g.6699_6701del, NG_032759.1:g.6700_6701del, NG_032759.1:g.6701del, NG_032759.1:g.6701dup, NG_032759.1:g.6700_6701dup, NG_032759.1:g.6699_6701dup, NG_032759.1:g.6698_6701dup, NG_032759.1:g.6697_6701dup, NG_032759.1:g.6696_6701dup, NG_032759.1:g.6695_6701dup

Select item 148929794012.

rs1489297940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55158325 (GRCh38)
19:55669693 (GRCh37)
Canonical SPDI:: NC_000019.10:55158324:C:G
Gene:: TNNI3 (Varview), DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55158325C>G, NC_000019.9:g.55669693C>G, NG_007866.2:g.4408G>C, NG_032759.1:g.13398G>C

Select item 148917954013.

rs1489179540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATATA [Show Flanks]
Chromosome:: 19:55168388 (GRCh38)
19:55679757 (GRCh37)
Canonical SPDI:: NC_000019.10:55168388:ATATATATATA:ATATATATATACATATATATATA
Gene:: DNAAF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATACATATATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.55168389_55168399AT[5]ACATATATATATA[1], NC_000019.9:g.55679757_55679767AT[5]ACATATATATATA[1], NG_032759.1:g.3324_3334TA[5]TGTATATATATAT[1]

Select item 148877239214.

rs1488772392 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:55163009 (GRCh38)
19:55674378 (GRCh37)
Canonical SPDI:: NC_000019.10:55163009::C
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00015/2 (TOMMO)
HGVS:: NC_000019.10:g.55163009_55163010insC, NC_000019.9:g.55674377_55674378insC, NG_032759.1:g.8713_8714insG

Select item 148865962715.

rs1488659627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55160935 (GRCh38)
19:55672303 (GRCh37)
Canonical SPDI:: NC_000019.10:55160934:A:G
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.55160935A>G, NC_000019.9:g.55672303A>G, NG_007866.2:g.1798T>C, NG_032759.1:g.10788T>C

Select item 148843054316.

rs1488430543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55159692 (GRCh38)
19:55671060 (GRCh37)
Canonical SPDI:: NC_000019.10:55159691:G:A
Gene:: TNNI3 (Varview), DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.55159692G>A, NC_000019.9:g.55671060G>A, NG_007866.2:g.3041C>T, NG_032759.1:g.12031C>T

Select item 148799902717.

rs1487999027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55158915 (GRCh38)
19:55670283 (GRCh37)
Canonical SPDI:: NC_000019.10:55158914:A:G
Gene:: TNNI3 (Varview), DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55158915A>G, NC_000019.9:g.55670283A>G, NG_007866.2:g.3818T>C, NG_032759.1:g.12808T>C, NM_178837.4:c.*147T>C, NM_001256716.2:c.*147T>C, NM_001256716.1:c.*147T>C, NM_001256715.2:c.*147T>C, NM_001256715.1:c.*147T>C, NM_001256714.1:c.*147T>C, NM_001031802.1:c.*1561T>C

Select item 148789379118.

rs1487893791 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:55158399 (GRCh38)
19:55669767 (GRCh37)
Canonical SPDI:: NC_000019.10:55158398:CCCC:CCC
Gene:: TNNI3 (Varview), DNAAF3 (Varview), DNAAF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCC=0.00093/11 (ALFA)
HGVS:: NC_000019.10:g.55158402del, NC_000019.9:g.55669770del, NG_007866.2:g.4334del, NG_032759.1:g.13324del

Select item 148782194619.

rs1487821946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55165709 (GRCh38)
19:55677077 (GRCh37)
Canonical SPDI:: NC_000019.10:55165708:C:G
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview), LOC124904795 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.55165709C>G, NC_000019.9:g.55677077C>G, NG_032759.1:g.6014G>C

Select item 148763080020.

rs1487630800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55165929 (GRCh38)
19:55677297 (GRCh37)
Canonical SPDI:: NC_000019.10:55165928:C:A,NC_000019.10:55165928:C:T
Gene:: DNAAF3 (Varview), DNAAF3-AS1 (Varview), LOC124904795 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55165929C>A, NC_000019.10:g.55165929C>T, NC_000019.9:g.55677297C>A, NC_000019.9:g.55677297C>T, NG_032759.1:g.5794G>T, NG_032759.1:g.5794G>A, NM_178837.4:c.298G>T, NM_178837.4:c.298G>A, NM_001256716.2:c.-82G>T, NM_001256716.2:c.-82G>A, NM_001256716.1:c.-82G>T, NM_001256716.1:c.-82G>A, NM_001256715.2:c.157G>T, NM_001256715.2:c.157G>A, NM_001256715.1:c.157G>T, NM_001256715.1:c.157G>A, NM_001256714.1:c.361G>T, NM_001256714.1:c.361G>A, NM_001031802.1:c.298G>T, NM_001031802.1:c.298G>A, XR_007067345.1:n.674C>A, XR_007067345.1:n.674C>T, XR_007067344.1:n.467C>A, XR_007067344.1:n.467C>T, NP_849159.2:p.Gly100Cys, NP_849159.2:p.Gly100Ser, NP_001243644.1:p.Gly53Cys, NP_001243644.1:p.Gly53Ser, NP_001243643.1:p.Gly121Cys, NP_001243643.1:p.Gly121Ser

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