SNP Links for Gene (Select 55466) - SNP

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Select item 14915657831.

rs1491565783 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 15:78270698 (GRCh38)
15:78563041 (GRCh37)
Canonical SPDI:: NC_000015.10:78270698:T:TTTT
Gene:: DNAJA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
TTT=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.78270699_78270700insTTT, NC_000015.9:g.78563041_78563042insTTT

Select item 14915367302.

rs1491536730 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 15:78267152 (GRCh38)
15:78559495 (GRCh37)
Canonical SPDI:: NC_000015.10:78267152::T,NC_000015.10:78267152::TT
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TT=0.000035/1 (TOMMO)
T=0.000203/28 (GnomAD)
HGVS:: NC_000015.10:g.78267152_78267153insT, NC_000015.10:g.78267152_78267153insTT, NC_000015.9:g.78559494_78559495insT, NC_000015.9:g.78559494_78559495insTT, XM_047432835.1:c.-2907_-2906insT, XM_047432835.1:c.-2907_-2906insTT

Select item 14914365063.

rs1491436506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGTGTATGTGTG [Show Flanks]
Chromosome:: 15:78267182 (GRCh38)
15:78559525 (GRCh37)
Canonical SPDI:: NC_000015.10:78267182:TGTGTG:TGTGTGAGTGTGTATGTGTG
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TGTGTGAGTGTGTA=0.00074/50 (GnomAD)
TGTGTGAGTGTGTA=0.00447/75 (TOMMO)
TGTGTGAGTGTGTA=0.01038/19 (Korea1K)
HGVS:: NC_000015.10:g.78267183_78267188TG[3]AGTGTGTATGTGTG[1], NC_000015.9:g.78559525_78559530TG[3]AGTGTGTATGTGTG[1], XM_047432835.1:c.-2876_-2871TG[3]AGTGTGTATGTGTG[1]

Select item 14913078244.

rs1491307824 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:78267212 (GRCh38)
15:78559554 (GRCh37)
Canonical SPDI:: NC_000015.10:78267210:TAT:T
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000015.10:g.78267212_78267213del, NC_000015.9:g.78559554_78559555del, XM_047432835.1:c.-2847_-2846del

Select item 14912949905.

rs1491294990 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGATTGTGT [Show Flanks]
Chromosome:: 15:78267174 (GRCh38)
15:78559517 (GRCh37)
Canonical SPDI:: NC_000015.10:78267174:TGTGT:TGTGTATGTGATTGTGT
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTATGTGATTGTGT=0./0 (ALFA)
TGTGTATGTGAT=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.78267175_78267179TG[2]TATGTGATTGTGT[1], NC_000015.9:g.78559517_78559521TG[2]TATGTGATTGTGT[1], XM_047432835.1:c.-2884_-2880TG[2]TATGTGATTGTGT[1]

Select item 14912480386.

rs1491248038 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGTGTGTATGTGA [Show Flanks]
Chromosome:: 15:78267211 (GRCh38)
15:78559554 (GRCh37)
Canonical SPDI:: NC_000015.10:78267211::G,NC_000015.10:78267211::GAGTGTGTATGTGA
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGTGTGTATGTGA=0./0 (ALFA)
G=0.00011/3 (TOMMO)
HGVS:: NC_000015.10:g.78267211_78267212insG, NC_000015.10:g.78267211_78267212insGAGTGTGTATGTGA, NC_000015.9:g.78559553_78559554insG, NC_000015.9:g.78559553_78559554insGAGTGTGTATGTGA, XM_047432835.1:c.-2848_-2847insG, XM_047432835.1:c.-2848_-2847insGAGTGTGTATGTGA

Select item 14912448227.

rs1491244822 has merged into rs796738360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 15:78267185 (GRCh38)
15:78559527 (GRCh37)
Canonical SPDI:: NC_000015.10:78267181:GTGTGTGTGTG:GTG,NC_000015.10:78267181:GTGTGTGTGTG:GTGTG,NC_000015.10:78267181:GTGTGTGTGTG:GTGTGTG,NC_000015.10:78267181:GTGTGTGTGTG:GTGTGTGTG,NC_000015.10:78267181:GTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000015.10:78267181:GTGTGTGTGTG:GTGTGTGTGTGTGTGTG
Gene:: DNAJA4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
-=0.39091/172 (NorthernSweden)
TGTG=0.39906/676 (Korea1K)
-=0.48608/7345 (TOMMO)
-=0.49102/82 (Vietnamese)
HGVS:: NC_000015.10:g.78267183TG[1], NC_000015.10:g.78267183TG[2], NC_000015.10:g.78267183TG[3], NC_000015.10:g.78267183TG[4], NC_000015.10:g.78267183TG[7], NC_000015.10:g.78267183TG[8], NC_000015.9:g.78559525TG[1], NC_000015.9:g.78559525TG[2], NC_000015.9:g.78559525TG[3], NC_000015.9:g.78559525TG[4], NC_000015.9:g.78559525TG[7], NC_000015.9:g.78559525TG[8], XM_047432835.1:c.-2876TG[1], XM_047432835.1:c.-2876TG[2], XM_047432835.1:c.-2876TG[3], XM_047432835.1:c.-2876TG[4], XM_047432835.1:c.-2876TG[7], XM_047432835.1:c.-2876TG[8]

Select item 14912405368.

rs1491240536 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:78267153 (GRCh38)
15:78559495 (GRCh37)
Canonical SPDI:: NC_000015.10:78267151:GAG:G
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000253/3 (ALFA)
-=0.000145/20 (GnomAD)
HGVS:: NC_000015.10:g.78267153_78267154del, NC_000015.9:g.78559495_78559496del, XM_047432835.1:c.-2906_-2905del

Select item 14911890569.

rs1491189056 has merged into rs1198780239 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 15:78267177 (GRCh38)
15:78559519 (GRCh37)
Canonical SPDI:: NC_000015.10:78267173:GTGTGTG:GTG,NC_000015.10:78267173:GTGTGTG:GTGTG,NC_000015.10:78267173:GTGTGTG:GTGTGTGTG,NC_000015.10:78267173:GTGTGTG:GTGTGTGTGTG
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.78267175TG[1], NC_000015.10:g.78267175TG[2], NC_000015.10:g.78267175TG[4], NC_000015.10:g.78267175TG[5], NC_000015.9:g.78559517TG[1], NC_000015.9:g.78559517TG[2], NC_000015.9:g.78559517TG[4], NC_000015.9:g.78559517TG[5], XM_047432835.1:c.-2884TG[1], XM_047432835.1:c.-2884TG[2], XM_047432835.1:c.-2884TG[4], XM_047432835.1:c.-2884TG[5]

Select item 149108090810.

rs1491080908 has merged into rs33990133 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:78278837 (GRCh38)
15:78571179 (GRCh37)
Canonical SPDI:: NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:78278826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAJA4 (Varview), LOC105370910 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.78278837_78278850del, NC_000015.10:g.78278839_78278850del, NC_000015.10:g.78278840_78278850del, NC_000015.10:g.78278841_78278850del, NC_000015.10:g.78278842_78278850del, NC_000015.10:g.78278843_78278850del, NC_000015.10:g.78278844_78278850del, NC_000015.10:g.78278845_78278850del, NC_000015.10:g.78278846_78278850del, NC_000015.10:g.78278847_78278850del, NC_000015.10:g.78278848_78278850del, NC_000015.10:g.78278849_78278850del, NC_000015.10:g.78278850del, NC_000015.10:g.78278850dup, NC_000015.10:g.78278849_78278850dup, NC_000015.10:g.78278848_78278850dup, NC_000015.10:g.78278847_78278850dup, NC_000015.10:g.78278846_78278850dup, NC_000015.10:g.78278845_78278850dup, NC_000015.10:g.78278844_78278850dup, NC_000015.10:g.78278843_78278850dup, NC_000015.10:g.78278842_78278850dup, NC_000015.10:g.78278841_78278850dup, NC_000015.10:g.78278840_78278850dup, NC_000015.10:g.78278839_78278850dup, NC_000015.9:g.78571179_78571192del, NC_000015.9:g.78571181_78571192del, NC_000015.9:g.78571182_78571192del, NC_000015.9:g.78571183_78571192del, NC_000015.9:g.78571184_78571192del, NC_000015.9:g.78571185_78571192del, NC_000015.9:g.78571186_78571192del, NC_000015.9:g.78571187_78571192del, NC_000015.9:g.78571188_78571192del, NC_000015.9:g.78571189_78571192del, NC_000015.9:g.78571190_78571192del, NC_000015.9:g.78571191_78571192del, NC_000015.9:g.78571192del, NC_000015.9:g.78571192dup, NC_000015.9:g.78571191_78571192dup, NC_000015.9:g.78571190_78571192dup, NC_000015.9:g.78571189_78571192dup, NC_000015.9:g.78571188_78571192dup, NC_000015.9:g.78571187_78571192dup, NC_000015.9:g.78571186_78571192dup, NC_000015.9:g.78571185_78571192dup, NC_000015.9:g.78571184_78571192dup, NC_000015.9:g.78571183_78571192dup, NC_000015.9:g.78571182_78571192dup, NC_000015.9:g.78571181_78571192dup

Select item 149100097011.

rs1491000970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:78268420 (GRCh38)
15:78560762 (GRCh37)
Canonical SPDI:: NC_000015.10:78268419:G:A
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.78268420G>A, NC_000015.9:g.78560762G>A, XM_047432835.1:c.-1639G>A

Select item 149092912112.

rs1490929121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:78269408 (GRCh38)
15:78561750 (GRCh37)
Canonical SPDI:: NC_000015.10:78269407:T:C
Gene:: DNAJA4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.78269408T>C, NC_000015.9:g.78561750T>C, XM_047432835.1:c.-651T>C

Select item 149083924813.

rs1490839248 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:78264321 (GRCh38)
15:78556663 (GRCh37)
Canonical SPDI:: NC_000015.10:78264320:GGGG:GGG
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,frameshift_variant
HGVS:: NC_000015.10:g.78264324del, NC_000015.9:g.78556666del, NM_018602.4:c.11del, NM_018602.3:c.11del, NR_170657.1:n.180del, XM_047432836.1:c.11del, NR_170654.1:n.180del, XM_047432834.1:c.-193del, NP_061072.3:p.Gly4fs, XP_047288792.1:p.Gly4fs

Select item 149082424514.

rs1490824245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:78265777 (GRCh38)
15:78558119 (GRCh37)
Canonical SPDI:: NC_000015.10:78265776:C:T
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.78265777C>T, NC_000015.9:g.78558119C>T

Select item 149069469715.

rs1490694697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:78277453 (GRCh38)
15:78569795 (GRCh37)
Canonical SPDI:: NC_000015.10:78277452:T:C
Gene:: DNAJA4 (Varview), LOC105370910 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.78277453T>C, NC_000015.9:g.78569795T>C

Select item 149050922116.

rs1490509221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:78265427 (GRCh38)
15:78557769 (GRCh37)
Canonical SPDI:: NC_000015.10:78265426:C:G
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.78265427C>G, NC_000015.9:g.78557769C>G

Select item 149034762917.

rs1490347629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:78264605 (GRCh38)
15:78556947 (GRCh37)
Canonical SPDI:: NC_000015.10:78264604:G:A,NC_000015.10:78264604:G:C,NC_000015.10:78264604:G:T
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.78264605G>A, NC_000015.10:g.78264605G>C, NC_000015.10:g.78264605G>T, NC_000015.9:g.78556947G>A, NC_000015.9:g.78556947G>C, NC_000015.9:g.78556947G>T, NM_001130182.2:c.-159G>A, NM_001130182.2:c.-159G>C, NM_001130182.2:c.-159G>T, NR_170656.1:n.44G>A, NR_170656.1:n.44G>C, NR_170656.1:n.44G>T, NR_170655.1:n.44G>A, NR_170655.1:n.44G>C, NR_170655.1:n.44G>T, NR_170658.1:n.44G>A, NR_170658.1:n.44G>C, NR_170658.1:n.44G>T, NR_170666.1:n.44G>A, NR_170666.1:n.44G>C, NR_170666.1:n.44G>T, NR_170653.1:n.44G>A, NR_170653.1:n.44G>C, NR_170653.1:n.44G>T, NM_001387386.1:c.-159G>A, NM_001387386.1:c.-159G>C, NM_001387386.1:c.-159G>T, NM_001387387.1:c.-159G>A, NM_001387387.1:c.-159G>C, NM_001387387.1:c.-159G>T

Select item 149025704918.

rs1490257049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:78262594 (GRCh38)
15:78554936 (GRCh37)
Canonical SPDI:: NC_000015.10:78262593:A:C,NC_000015.10:78262593:A:G
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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)
C=0.000937/6 (1000Genomes)
HGVS:: NC_000015.10:g.78262594A>C, NC_000015.10:g.78262594A>G, NC_000015.9:g.78554936A>C, NC_000015.9:g.78554936A>G

Select item 148980796119.

rs1489807961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:78274494 (GRCh38)
15:78566836 (GRCh37)
Canonical SPDI:: NC_000015.10:78274493:C:T
Gene:: DNAJA4 (Varview), LOC105370910 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000015.10:g.78274494C>T, NC_000015.9:g.78566836C>T, XR_932500.3:n.1097G>A, XR_932500.2:n.1018G>A

Select item 148973131920.

rs1489731319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:78262221 (GRCh38)
15:78554563 (GRCh37)
Canonical SPDI:: NC_000015.10:78262220:T:C
Gene:: DNAJA4 (Varview), DNAJA4-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.78262221T>C, NC_000015.9:g.78554563T>C

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