SNP Links for Gene (Select 131368) - SNP

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Select item 14914138251.

rs1491413825 has merged into rs78313029 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 3:102384830 (GRCh38)
3:102103674 (GRCh37)
Canonical SPDI:: NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:102384818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ZPLD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.09864/494 (1000Genomes)
-=0.175/105 (NorthernSweden)
HGVS:: NC_000003.12:g.102384830_102384836del, NC_000003.12:g.102384831_102384836del, NC_000003.12:g.102384832_102384836del, NC_000003.12:g.102384833_102384836del, NC_000003.12:g.102384835_102384836del, NC_000003.12:g.102384836del, NC_000003.12:g.102384836dup, NC_000003.12:g.102384835_102384836dup, NC_000003.12:g.102384834_102384836dup, NC_000003.11:g.102103674_102103680del, NC_000003.11:g.102103675_102103680del, NC_000003.11:g.102103676_102103680del, NC_000003.11:g.102103677_102103680del, NC_000003.11:g.102103679_102103680del, NC_000003.11:g.102103680del, NC_000003.11:g.102103680dup, NC_000003.11:g.102103679_102103680dup, NC_000003.11:g.102103678_102103680dup

Select item 14913663092.

rs1491366309 [Homo sapiens]

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

Select item 14913526343.

rs1491352634 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:102462354 (GRCh38)
3:102181198 (GRCh37)
Canonical SPDI:: NC_000003.12:102462353:TC:
Gene:: ZPLD1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000203/24 (ExAC)
HGVS:: NC_000003.12:g.102462354_102462355del, NC_000003.11:g.102181198_102181199del, NM_001329788.2:c.656_657del, NM_001329788.1:c.656_657del, NM_175056.2:c.704_705del, NM_175056.1:c.704_705del, XM_017005703.1:c.656_657del, XM_017005704.1:c.656_657del, NP_001316717.1:p.Val219fs, NP_778226.1:p.Val235fs, XP_016861192.1:p.Val219fs, XP_016861193.1:p.Val219fs

Select item 14913041784.

rs1491304178 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:102452255 (GRCh38)
3:102171100 (GRCh37)
Canonical SPDI:: NC_000003.12:102452255::A
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.0001/5 (GnomAD)
HGVS:: NC_000003.12:g.102452255_102452256insA, NC_000003.11:g.102171099_102171100insA

Select item 14912652025.

rs1491265202 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:102472532 (GRCh38)
3:102191377 (GRCh37)
Canonical SPDI:: NC_000003.12:102472532::C
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.102472532_102472533insC, NC_000003.11:g.102191376_102191377insC

Select item 14912513326.

rs1491251332 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:102452114 (GRCh38)
3:102170958 (GRCh37)
Canonical SPDI:: NC_000003.12:102452113:CG:
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00018/5 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000003.12:g.102452114_102452115del, NC_000003.11:g.102170958_102170959del

Select item 14912351547.

rs1491235154 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:102414785 (GRCh38)
3:102133629 (GRCh37)
Canonical SPDI:: NC_000003.12:102414783:AGA:A
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.102414785_102414786del, NC_000003.11:g.102133629_102133630del

Select item 14911929638.

rs1491192963 has merged into rs56086826 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:102452138 (GRCh38)
3:102170982 (GRCh37)
Canonical SPDI:: NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:102452114:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.2097/808 (ALSPAC)
GTGTGTGTGTGT=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.102452116TG[11], NC_000003.12:g.102452116TG[12], NC_000003.12:g.102452116TG[13], NC_000003.12:g.102452116TG[14], NC_000003.12:g.102452116TG[15], NC_000003.12:g.102452116TG[16], NC_000003.12:g.102452116TG[17], NC_000003.12:g.102452116TG[18], NC_000003.12:g.102452116TG[19], NC_000003.12:g.102452116TG[20], NC_000003.12:g.102452116TG[22], NC_000003.12:g.102452116TG[23], NC_000003.12:g.102452116TG[24], NC_000003.11:g.102170960TG[11], NC_000003.11:g.102170960TG[12], NC_000003.11:g.102170960TG[13], NC_000003.11:g.102170960TG[14], NC_000003.11:g.102170960TG[15], NC_000003.11:g.102170960TG[16], NC_000003.11:g.102170960TG[17], NC_000003.11:g.102170960TG[18], NC_000003.11:g.102170960TG[19], NC_000003.11:g.102170960TG[20], NC_000003.11:g.102170960TG[22], NC_000003.11:g.102170960TG[23], NC_000003.11:g.102170960TG[24]

Select item 14911809199.

rs1491180919 has merged into rs374641646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:102472545 (GRCh38)
3:102191389 (GRCh37)
Canonical SPDI:: NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:102472531:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.11444/65 (NorthernSweden)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000003.12:g.102472545_102472548del, NC_000003.12:g.102472546_102472548del, NC_000003.12:g.102472547_102472548del, NC_000003.12:g.102472548del, NC_000003.12:g.102472548dup, NC_000003.12:g.102472547_102472548dup, NC_000003.12:g.102472546_102472548dup, NC_000003.12:g.102472542_102472548dup, NC_000003.12:g.102472537_102472548dup, NC_000003.11:g.102191389_102191392del, NC_000003.11:g.102191390_102191392del, NC_000003.11:g.102191391_102191392del, NC_000003.11:g.102191392del, NC_000003.11:g.102191392dup, NC_000003.11:g.102191391_102191392dup, NC_000003.11:g.102191390_102191392dup, NC_000003.11:g.102191386_102191392dup, NC_000003.11:g.102191381_102191392dup

Select item 149096260710.

rs1490962607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:102426134 (GRCh38)
3:102144978 (GRCh37)
Canonical SPDI:: NC_000003.12:102426133:A:G,NC_000003.12:102426133:A:T
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000275/21 (GnomAD)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000003.12:g.102426134A>G, NC_000003.12:g.102426134A>T, NC_000003.11:g.102144978A>G, NC_000003.11:g.102144978A>T

Select item 149095487711.

rs1490954877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:102409541 (GRCh38)
3:102128385 (GRCh37)
Canonical SPDI:: NC_000003.12:102409540:T:A
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.102409541T>A, NC_000003.11:g.102128385T>A

Select item 149086758912.

rs1490867589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:102463258 (GRCh38)
3:102182102 (GRCh37)
Canonical SPDI:: NC_000003.12:102463257:C:T
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.102463258C>T, NC_000003.11:g.102182102C>T

Select item 149084273213.

rs1490842732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:102442246 (GRCh38)
3:102161090 (GRCh37)
Canonical SPDI:: NC_000003.12:102442245:T:G
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.102442246T>G, NC_000003.11:g.102161090T>G

Select item 149080060114.

rs1490800601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:102401902 (GRCh38)
3:102120746 (GRCh37)
Canonical SPDI:: NC_000003.12:102401901:C:T
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.102401902C>T, NC_000003.11:g.102120746C>T

Select item 149079101915.

rs1490791019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:102386245 (GRCh38)
3:102105089 (GRCh37)
Canonical SPDI:: NC_000003.12:102386244:A:C,NC_000003.12:102386244:A:G
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.102386245A>C, NC_000003.12:g.102386245A>G, NC_000003.11:g.102105089A>C, NC_000003.11:g.102105089A>G

Select item 149076992616.

rs1490769926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:102400765 (GRCh38)
3:102119609 (GRCh37)
Canonical SPDI:: NC_000003.12:102400764:G:A
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.102400765G>A, NC_000003.11:g.102119609G>A

Select item 149075717317.

rs1490757173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:102418227 (GRCh38)
3:102137071 (GRCh37)
Canonical SPDI:: NC_000003.12:102418226:G:A
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.102418227G>A, NC_000003.11:g.102137071G>A

Select item 149074953018.

rs1490749530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:102387333 (GRCh38)
3:102106177 (GRCh37)
Canonical SPDI:: NC_000003.12:102387332:A:G
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.102387333A>G, NC_000003.11:g.102106177A>G

Select item 149067518519.

rs1490675185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:102428633 (GRCh38)
3:102147477 (GRCh37)
Canonical SPDI:: NC_000003.12:102428632:T:C
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.102428633T>C, NC_000003.11:g.102147477T>C

Select item 149060885620.

rs1490608856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:102449876 (GRCh38)
3:102168720 (GRCh37)
Canonical SPDI:: NC_000003.12:102449875:A:T
Gene:: ZPLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.102449876A>T, NC_000003.11:g.102168720A>T

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