SNP Links for Gene (Select 104054148) - SNP

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Select item 14912677831.

rs1491267783 has merged into rs141735735 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:101988165 (GRCh38)
8:103000393 (GRCh37)
Canonical SPDI:: NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:101988154:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.101988165_101988167del, NC_000008.11:g.101988166_101988167del, NC_000008.11:g.101988167del, NC_000008.11:g.101988167dup, NC_000008.11:g.101988166_101988167dup, NC_000008.11:g.101988165_101988167dup, NC_000008.11:g.101988164_101988167dup, NC_000008.11:g.101988163_101988167dup, NC_000008.11:g.101988162_101988167dup, NC_000008.11:g.101988161_101988167dup, NC_000008.11:g.101988160_101988167dup, NC_000008.11:g.101988159_101988167dup, NC_000008.11:g.101988158_101988167dup, NC_000008.11:g.101988157_101988167dup, NC_000008.11:g.101988156_101988167dup, NC_000008.11:g.101988155_101988167dup, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.101988167_101988168insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000393_103000395del, NC_000008.10:g.103000394_103000395del, NC_000008.10:g.103000395del, NC_000008.10:g.103000395dup, NC_000008.10:g.103000394_103000395dup, NC_000008.10:g.103000393_103000395dup, NC_000008.10:g.103000392_103000395dup, NC_000008.10:g.103000391_103000395dup, NC_000008.10:g.103000390_103000395dup, NC_000008.10:g.103000389_103000395dup, NC_000008.10:g.103000388_103000395dup, NC_000008.10:g.103000387_103000395dup, NC_000008.10:g.103000386_103000395dup, NC_000008.10:g.103000385_103000395dup, NC_000008.10:g.103000384_103000395dup, NC_000008.10:g.103000383_103000395dup, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.103000395_103000396insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911657422.

rs1491165742 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:101988154 (GRCh38)
8:103000382 (GRCh37)
Canonical SPDI:: NC_000008.11:101988153:CA:
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000008.11:g.101988154_101988155del, NC_000008.10:g.103000382_103000383del

Select item 14910187033.

rs1491018703 has merged into rs1291358795 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:101988176 (GRCh38)
8:103000404 (GRCh37)
Canonical SPDI:: NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:101988168:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.001284/21 (TOMMO)
HGVS:: NC_000008.11:g.101988176_101988179del, NC_000008.11:g.101988177_101988179del, NC_000008.11:g.101988178_101988179del, NC_000008.11:g.101988179del, NC_000008.11:g.101988179dup, NC_000008.11:g.101988175_101988179dup, NC_000008.11:g.101988179_101988180insAAAAAAAAAAAAAAAA, NC_000008.10:g.103000404_103000407del, NC_000008.10:g.103000405_103000407del, NC_000008.10:g.103000406_103000407del, NC_000008.10:g.103000407del, NC_000008.10:g.103000407dup, NC_000008.10:g.103000403_103000407dup, NC_000008.10:g.103000407_103000408insAAAAAAAAAAAAAAAA

Select item 14907326834.

rs1490732683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:101993116 (GRCh38)
8:103005344 (GRCh37)
Canonical SPDI:: NC_000008.11:101993115:T:C,NC_000008.11:101993115:T:G
Gene:: NCALD (Varview), LOC104054148 (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)
G=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.101993116T>C, NC_000008.11:g.101993116T>G, NC_000008.10:g.103005344T>C, NC_000008.10:g.103005344T>G

Select item 14907250365.

rs1490725036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:101986144 (GRCh38)
8:102998372 (GRCh37)
Canonical SPDI:: NC_000008.11:101986143:C:A
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.101986144C>A, NC_000008.10:g.102998372C>A

Select item 14906869326.

rs1490686932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:101994307 (GRCh38)
8:103006535 (GRCh37)
Canonical SPDI:: NC_000008.11:101994306:G:A
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.101994307G>A, NC_000008.10:g.103006535G>A, NR_126152.1:n.1980G>A

Select item 14905695747.

rs1490569574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:101992693 (GRCh38)
8:103004921 (GRCh37)
Canonical SPDI:: NC_000008.11:101992692:G:T
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.101992693G>T, NC_000008.10:g.103004921G>T

Select item 14905619158.

rs1490561915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:101985110 (GRCh38)
8:102997338 (GRCh37)
Canonical SPDI:: NC_000008.11:101985109:C:A
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.101985110C>A, NC_000008.10:g.102997338C>A, NR_126152.1:n.679C>A

Select item 14905220549.

rs1490522054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:101993813 (GRCh38)
8:103006041 (GRCh37)
Canonical SPDI:: NC_000008.11:101993812:C:G,NC_000008.11:101993812:C:T
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.101993813C>G, NC_000008.11:g.101993813C>T, NC_000008.10:g.103006041C>G, NC_000008.10:g.103006041C>T

Select item 149025632610.

rs1490256326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:101989596 (GRCh38)
8:103001824 (GRCh37)
Canonical SPDI:: NC_000008.11:101989595:G:A
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.101989596G>A, NC_000008.10:g.103001824G>A

Select item 149024126111.

rs1490241261 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:101987410 (GRCh38)
8:102999638 (GRCh37)
Canonical SPDI:: NC_000008.11:101987409:T:
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.101987410del, NC_000008.10:g.102999638del, NR_126152.1:n.1155del

Select item 149023828712.

rs1490238287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:101983090 (GRCh38)
8:102995318 (GRCh37)
Canonical SPDI:: NC_000008.11:101983089:C:T
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.101983090C>T, NC_000008.10:g.102995318C>T

Select item 148977203613.

rs1489772036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:101991030 (GRCh38)
8:103003258 (GRCh37)
Canonical SPDI:: NC_000008.11:101991029:A:G
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.101991030A>G, NC_000008.10:g.103003258A>G

Select item 148951650514.

rs1489516505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATC [Show Flanks]
Chromosome:: 8:101987513 (GRCh38)
8:102999742 (GRCh37)
Canonical SPDI:: NC_000008.11:101987513:TATC:TATCTATC
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATCTATC=0./0 (ALFA)
TATC=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.101987514_101987517dup, NC_000008.10:g.102999742_102999745dup, NR_126152.1:n.1259_1262dup

Select item 148945518915.

rs1489455189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:101988164 (GRCh38)
8:103000392 (GRCh37)
Canonical SPDI:: NC_000008.11:101988163:A:G
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.00021/28 (GnomAD)
HGVS:: NC_000008.11:g.101988164A>G, NC_000008.10:g.103000392A>G

Select item 148920904916.

rs1489209049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:101990940 (GRCh38)
8:103003168 (GRCh37)
Canonical SPDI:: NC_000008.11:101990939:C:T
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000008.11:g.101990940C>T, NC_000008.10:g.103003168C>T

Select item 148864167317.

rs1488641673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:101983508 (GRCh38)
8:102995736 (GRCh37)
Canonical SPDI:: NC_000008.11:101983507:C:G,NC_000008.11:101983507:C:T
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.101983508C>G, NC_000008.11:g.101983508C>T, NC_000008.10:g.102995736C>G, NC_000008.10:g.102995736C>T

Select item 148843032418.

rs1488430324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:101990747 (GRCh38)
8:103002975 (GRCh37)
Canonical SPDI:: NC_000008.11:101990746:G:C
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.101990747G>C, NC_000008.10:g.103002975G>C

Select item 148797483319.

rs1487974833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:101994817 (GRCh38)
8:103007045 (GRCh37)
Canonical SPDI:: NC_000008.11:101994816:C:G
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.101994817C>G, NC_000008.10:g.103007045C>G, NR_126152.1:n.2431C>G

Select item 148792174120.

rs1487921741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:101995323 (GRCh38)
8:103007551 (GRCh37)
Canonical SPDI:: NC_000008.11:101995322:T:C
Gene:: NCALD (Varview), LOC104054148 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000008.11:g.101995323T>C, NC_000008.10:g.103007551T>C

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