SNP Links for Gene (Select 10591) - SNP

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Select item 14905293151.

rs1490529315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43229221 (GRCh38)
6:43196959 (GRCh37)
Canonical SPDI:: NC_000006.12:43229220:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.43229221C>T, NC_000006.11:g.43196959C>T

Select item 14901056492.

rs1490105649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43227337 (GRCh38)
6:43195075 (GRCh37)
Canonical SPDI:: NC_000006.12:43227336:C:G
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.43227337C>G, NC_000006.11:g.43195075C>G

Select item 14894251553.

rs1489425155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:43229762 (GRCh38)
6:43197500 (GRCh37)
Canonical SPDI:: NC_000006.12:43229761:G:A,NC_000006.12:43229761:G:T
Gene:: DNPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00053/9 (TOMMO)
A=0.00218/4 (Korea1K)
A=0.00308/9 (KOREAN)
HGVS:: NC_000006.12:g.43229762G>A, NC_000006.12:g.43229762G>T, NC_000006.11:g.43197500G>A, NC_000006.11:g.43197500G>T

Select item 14893723594.

rs1489372359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43229211 (GRCh38)
6:43196949 (GRCh37)
Canonical SPDI:: NC_000006.12:43229210:C:G,NC_000006.12:43229210:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.43229211C>G, NC_000006.12:g.43229211C>T, NC_000006.11:g.43196949C>G, NC_000006.11:g.43196949C>T

Select item 14891144155.

rs1489114415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:43228864 (GRCh38)
6:43196602 (GRCh37)
Canonical SPDI:: NC_000006.12:43228863:A:C
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000006.12:g.43228864A>C, NC_000006.11:g.43196602A>C

Select item 14890266926.

rs1489026692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43227899 (GRCh38)
6:43195637 (GRCh37)
Canonical SPDI:: NC_000006.12:43227898:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43227899G>A, NC_000006.11:g.43195637G>A

Select item 14889199347.

rs1488919934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43226929 (GRCh38)
6:43194667 (GRCh37)
Canonical SPDI:: NC_000006.12:43226928:A:G
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43226929A>G, NC_000006.11:g.43194667A>G

Select item 14888594098.

rs1488859409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43231333 (GRCh38)
6:43199071 (GRCh37)
Canonical SPDI:: NC_000006.12:43231332:T:C
Gene:: DNPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.43231333T>C, NC_000006.11:g.43199071T>C

Select item 14882208539.

rs1488220853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43231352 (GRCh38)
6:43199090 (GRCh37)
Canonical SPDI:: NC_000006.12:43231351:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.43231352G>A, NC_000006.11:g.43199090G>A

Select item 148728572010.

rs1487285720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:43227975 (GRCh38)
6:43195713 (GRCh37)
Canonical SPDI:: NC_000006.12:43227974:A:C
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43227975A>C, NC_000006.11:g.43195713A>C

Select item 148723924811.

rs1487239248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43226882 (GRCh38)
6:43194620 (GRCh37)
Canonical SPDI:: NC_000006.12:43226881:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43226882G>A, NC_000006.11:g.43194620G>A

Select item 148695503612.

rs1486955036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43225165 (GRCh38)
6:43192903 (GRCh37)
Canonical SPDI:: NC_000006.12:43225164:T:C
Gene:: DNPH1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000006.12:g.43225165T>C, NC_000006.11:g.43192903T>C

Select item 148653020913.

rs1486530209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:43229887 (GRCh38)
6:43197625 (GRCh37)
Canonical SPDI:: NC_000006.12:43229886:T:G
Gene:: DNPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.43229887T>G, NC_000006.11:g.43197625T>G

Select item 148634782914.

rs1486347829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43230884 (GRCh38)
6:43198622 (GRCh37)
Canonical SPDI:: NC_000006.12:43230883:C:A
Gene:: DNPH1 (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)
HGVS:: NC_000006.12:g.43230884C>A, NC_000006.11:g.43198622C>A

Select item 148585381215.

rs1485853812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43228018 (GRCh38)
6:43195756 (GRCh37)
Canonical SPDI:: NC_000006.12:43228017:A:G
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43228018A>G, NC_000006.11:g.43195756A>G

Select item 148576363516.

rs1485763635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43227053 (GRCh38)
6:43194791 (GRCh37)
Canonical SPDI:: NC_000006.12:43227052:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43227053G>A, NC_000006.11:g.43194791G>A

Select item 148555303317.

rs1485553033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43230482 (GRCh38)
6:43198220 (GRCh37)
Canonical SPDI:: NC_000006.12:43230481:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43230482C>T, NC_000006.11:g.43198220C>T

Select item 148450738018.

rs1484507380 has merged into rs1185264753 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:43225174 (GRCh38)
6:43192912 (GRCh37)
Canonical SPDI:: NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43225164:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNPH1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.43225174_43225183del, NC_000006.12:g.43225175_43225183del, NC_000006.12:g.43225176_43225183del, NC_000006.12:g.43225177_43225183del, NC_000006.12:g.43225178_43225183del, NC_000006.12:g.43225180_43225183del, NC_000006.12:g.43225182_43225183del, NC_000006.12:g.43225183del, NC_000006.12:g.43225183dup, NC_000006.12:g.43225182_43225183dup, NC_000006.12:g.43225181_43225183dup, NC_000006.12:g.43225180_43225183dup, NC_000006.11:g.43192912_43192921del, NC_000006.11:g.43192913_43192921del, NC_000006.11:g.43192914_43192921del, NC_000006.11:g.43192915_43192921del, NC_000006.11:g.43192916_43192921del, NC_000006.11:g.43192918_43192921del, NC_000006.11:g.43192920_43192921del, NC_000006.11:g.43192921del, NC_000006.11:g.43192921dup, NC_000006.11:g.43192920_43192921dup, NC_000006.11:g.43192919_43192921dup, NC_000006.11:g.43192918_43192921dup

Select item 148438182019.

rs1484381820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43228153 (GRCh38)
6:43195891 (GRCh37)
Canonical SPDI:: NC_000006.12:43228152:A:G
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.43228153A>G, NC_000006.11:g.43195891A>G

Select item 148430310020.

rs1484303100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43227143 (GRCh38)
6:43194881 (GRCh37)
Canonical SPDI:: NC_000006.12:43227142:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000006.12:g.43227143G>A, NC_000006.11:g.43194881G>A

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