SNP Links for Gene (Select 206426) - SNP

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Select item 14915044331.

rs1491504433 has merged into rs11285388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:7990799 (GRCh38)
6:7991032 (GRCh37)
Canonical SPDI:: NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7990789:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.339058/1698 (1000Genomes)
TTTTTTTTTT=0.395693/1525 (ALSPAC)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000006.12:g.7990799_7990811del, NC_000006.12:g.7990800_7990811del, NC_000006.12:g.7990801_7990811del, NC_000006.12:g.7990802_7990811del, NC_000006.12:g.7990803_7990811del, NC_000006.12:g.7990804_7990811del, NC_000006.12:g.7990805_7990811del, NC_000006.12:g.7990807_7990811del, NC_000006.12:g.7990808_7990811del, NC_000006.12:g.7990809_7990811del, NC_000006.12:g.7990810_7990811del, NC_000006.12:g.7990811del, NC_000006.12:g.7990811dup, NC_000006.12:g.7990810_7990811dup, NC_000006.12:g.7990809_7990811dup, NC_000006.12:g.7990808_7990811dup, NC_000006.12:g.7990807_7990811dup, NC_000006.12:g.7990806_7990811dup, NC_000006.12:g.7990805_7990811dup, NC_000006.12:g.7990804_7990811dup, NC_000006.12:g.7990803_7990811dup, NC_000006.12:g.7990802_7990811dup, NC_000006.12:g.7990799_7990811dup, NC_000006.12:g.7990811_7990812insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.7990811_7990812insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.7990811_7990812insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.7991032_7991044del, NC_000006.11:g.7991033_7991044del, NC_000006.11:g.7991034_7991044del, NC_000006.11:g.7991035_7991044del, NC_000006.11:g.7991036_7991044del, NC_000006.11:g.7991037_7991044del, NC_000006.11:g.7991038_7991044del, NC_000006.11:g.7991040_7991044del, NC_000006.11:g.7991041_7991044del, NC_000006.11:g.7991042_7991044del, NC_000006.11:g.7991043_7991044del, NC_000006.11:g.7991044del, NC_000006.11:g.7991044dup, NC_000006.11:g.7991043_7991044dup, NC_000006.11:g.7991042_7991044dup, NC_000006.11:g.7991041_7991044dup, NC_000006.11:g.7991040_7991044dup, NC_000006.11:g.7991039_7991044dup, NC_000006.11:g.7991038_7991044dup, NC_000006.11:g.7991037_7991044dup, NC_000006.11:g.7991036_7991044dup, NC_000006.11:g.7991035_7991044dup, NC_000006.11:g.7991032_7991044dup, NC_000006.11:g.7991044_7991045insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.7991044_7991045insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.7991044_7991045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911927422.

rs1491192742 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTCTTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14911452083.

rs1491145208 has merged into rs11295581 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:7986065 (GRCh38)
6:7986298 (GRCh37)
Canonical SPDI:: NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7986059:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000064/17 (TOPMED)
A=0.224641/1125 (1000Genomes)
HGVS:: NC_000006.12:g.7986065_7986072del, NC_000006.12:g.7986066_7986072del, NC_000006.12:g.7986070_7986072del, NC_000006.12:g.7986071_7986072del, NC_000006.12:g.7986072del, NC_000006.12:g.7986072dup, NC_000006.12:g.7986071_7986072dup, NC_000006.12:g.7986070_7986072dup, NC_000006.12:g.7986065_7986072dup, NC_000006.12:g.7986060_7986072dup, NC_000006.11:g.7986298_7986305del, NC_000006.11:g.7986299_7986305del, NC_000006.11:g.7986303_7986305del, NC_000006.11:g.7986304_7986305del, NC_000006.11:g.7986305del, NC_000006.11:g.7986305dup, NC_000006.11:g.7986304_7986305dup, NC_000006.11:g.7986303_7986305dup, NC_000006.11:g.7986298_7986305dup, NC_000006.11:g.7986293_7986305dup

Select item 14910619044.

rs1491061904 has merged into rs35367492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:7985729 (GRCh38)
6:7985962 (GRCh37)
Canonical SPDI:: NC_000006.12:7985715:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7985715:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7985715:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7985715:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:7985715:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2969/1487 (1000Genomes)
HGVS:: NC_000006.12:g.7985729_7985730del, NC_000006.12:g.7985730del, NC_000006.12:g.7985730dup, NC_000006.12:g.7985729_7985730dup, NC_000006.12:g.7985728_7985730dup, NC_000006.11:g.7985962_7985963del, NC_000006.11:g.7985963del, NC_000006.11:g.7985963dup, NC_000006.11:g.7985962_7985963dup, NC_000006.11:g.7985961_7985963dup

Select item 14910080175.

rs1491008017 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 14904553866.

rs1490455386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:7986297 (GRCh38)
6:7986530 (GRCh37)
Canonical SPDI:: NC_000006.12:7986296:G:A,NC_000006.12:7986296:G:C
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7986297G>A, NC_000006.12:g.7986297G>C, NC_000006.11:g.7986530G>A, NC_000006.11:g.7986530G>C, NM_152700.2:c.-240G>A, NM_152700.2:c.-240G>C, NR_027712.1:n.196G>A, NR_027712.1:n.196G>C, NM_152700.1:c.-240G>A, NM_152700.1:c.-240G>C

Select item 14901775407.

rs1490177540 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 6:7984612 (GRCh38)
6:7984845 (GRCh37)
Canonical SPDI:: NC_000006.12:7984606:ATAATAAT:ATAAT
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7984609AAT[1], NC_000006.11:g.7984842AAT[1]

Select item 14901294348.

rs1490129434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:7985678 (GRCh38)
6:7985911 (GRCh37)
Canonical SPDI:: NC_000006.12:7985677:C:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7985678C>A, NC_000006.11:g.7985911C>A

Select item 14885595849.

rs1488559584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7988010 (GRCh38)
6:7988243 (GRCh37)
Canonical SPDI:: NC_000006.12:7988009:G:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_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.7988010G>A, NC_000006.11:g.7988243G>A, NM_152700.2:c.1474G>A, NR_027712.1:n.1909G>A, NM_152700.1:c.1474G>A

Select item 148768487310.

rs1487684873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCC [Show Flanks]
Chromosome:: 6:7986744 (GRCh38)
6:7986978 (GRCh37)
Canonical SPDI:: NC_000006.12:7986744:CAGCC:CAGCCAGCC
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCCAGCC=0./0 (ALFA)
CAGC=0.000004/1 (TOPMED)
CAGC=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7986746_7986749dup, NC_000006.11:g.7986979_7986982dup, NM_152700.2:c.210_213dup, NR_027712.1:n.645_648dup, NM_152700.1:c.210_213dup

Select item 148743126911.

rs1487431269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:7990497 (GRCh38)
6:7990730 (GRCh37)
Canonical SPDI:: NC_000006.12:7990496:C:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.7990497C>A, NC_000006.11:g.7990730C>A

Select item 148695334012.

rs1486953340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:7986841 (GRCh38)
6:7987074 (GRCh37)
Canonical SPDI:: NC_000006.12:7986840:T:A,NC_000006.12:7986840:T:C
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.7986841T>A, NC_000006.12:g.7986841T>C, NC_000006.11:g.7987074T>A, NC_000006.11:g.7987074T>C, NM_152700.2:c.305T>A, NM_152700.2:c.305T>C, NR_027712.1:n.740T>A, NR_027712.1:n.740T>C, NM_152700.1:c.305T>A, NM_152700.1:c.305T>C

Select item 148689267213.

rs1486892672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7986583 (GRCh38)
6:7986816 (GRCh37)
Canonical SPDI:: NC_000006.12:7986582:C:T
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7986583C>T, NC_000006.11:g.7986816C>T, NM_152700.2:c.47C>T, NR_027712.1:n.482C>T, NM_152700.1:c.47C>T

Select item 148679580614.

rs1486795806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7989398 (GRCh38)
6:7989631 (GRCh37)
Canonical SPDI:: NC_000006.12:7989397:G:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_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.7989398G>A, NC_000006.11:g.7989631G>A, NM_152700.2:c.*1324G>A, NR_027712.1:n.3297G>A, NM_152700.1:c.*1324G>A

Select item 148672469915.

rs1486724699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:7990625 (GRCh38)
6:7990858 (GRCh37)
Canonical SPDI:: NC_000006.12:7990624:G:C
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7990625G>C, NC_000006.11:g.7990858G>C

Select item 148609587216.

rs1486095872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7989865 (GRCh38)
6:7990098 (GRCh37)
Canonical SPDI:: NC_000006.12:7989864:A:G
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.7989865A>G, NC_000006.11:g.7990098A>G, NM_152700.2:c.*1791A>G, NR_027712.1:n.3764A>G, NM_152700.1:c.*1791A>G

Select item 148551599317.

rs1485515993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:7987814 (GRCh38)
6:7988047 (GRCh37)
Canonical SPDI:: NC_000006.12:7987813:T:C
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000006.12:g.7987814T>C, NC_000006.11:g.7988047T>C, NM_152700.2:c.1278T>C, NR_027712.1:n.1713T>C, NM_152700.1:c.1278T>C

Select item 148544458318.

rs1485444583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7988855 (GRCh38)
6:7989088 (GRCh37)
Canonical SPDI:: NC_000006.12:7988854:G:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.7988855G>A, NC_000006.11:g.7989088G>A, NM_152700.2:c.*781G>A, NR_027712.1:n.2754G>A, NM_152700.1:c.*781G>A

Select item 148525376619.

rs1485253766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7986888 (GRCh38)
6:7987121 (GRCh37)
Canonical SPDI:: NC_000006.12:7986887:G:A
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.7986888G>A, NC_000006.11:g.7987121G>A, NM_152700.2:c.352G>A, NR_027712.1:n.787G>A, NM_152700.1:c.352G>A

Select item 148453225620.

rs1484532256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:7988997 (GRCh38)
6:7989230 (GRCh37)
Canonical SPDI:: NC_000006.12:7988996:G:C
Gene:: PIP5K1P1 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.7988997G>C, NC_000006.11:g.7989230G>C, NM_152700.2:c.*923G>C, NR_027712.1:n.2896G>C, NM_152700.1:c.*923G>C

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