SNP Links for Gene (Select 140576) - SNP

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Select item 14913244231.

rs1491324423 has merged into rs55767731 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:153606584 (GRCh38)
1:153579060 (GRCh37)
Canonical SPDI:: NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153606573:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: S100A16 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.3954/1980 (1000Genomes)
HGVS:: NC_000001.11:g.153606584_153606592del, NC_000001.11:g.153606585_153606592del, NC_000001.11:g.153606586_153606592del, NC_000001.11:g.153606587_153606592del, NC_000001.11:g.153606588_153606592del, NC_000001.11:g.153606589_153606592del, NC_000001.11:g.153606590_153606592del, NC_000001.11:g.153606591_153606592del, NC_000001.11:g.153606592del, NC_000001.11:g.153606592dup, NC_000001.11:g.153606591_153606592dup, NC_000001.11:g.153606589_153606592dup, NC_000001.11:g.153606588_153606592dup, NC_000001.11:g.153606585_153606592dup, NC_000001.10:g.153579060_153579068del, NC_000001.10:g.153579061_153579068del, NC_000001.10:g.153579062_153579068del, NC_000001.10:g.153579063_153579068del, NC_000001.10:g.153579064_153579068del, NC_000001.10:g.153579065_153579068del, NC_000001.10:g.153579066_153579068del, NC_000001.10:g.153579067_153579068del, NC_000001.10:g.153579068del, NC_000001.10:g.153579068dup, NC_000001.10:g.153579067_153579068dup, NC_000001.10:g.153579065_153579068dup, NC_000001.10:g.153579064_153579068dup, NC_000001.10:g.153579061_153579068dup

Select item 14911739702.

rs1491173970 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:153606573 (GRCh38)
1:153579049 (GRCh37)
Canonical SPDI:: NC_000001.11:153606572:CA:
Gene:: S100A16 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00006/5 (GnomAD)
HGVS:: NC_000001.11:g.153606573_153606574del, NC_000001.10:g.153579049_153579050del

Select item 14908203493.

rs1490820349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:153613286 (GRCh38)
1:153585762 (GRCh37)
Canonical SPDI:: NC_000001.11:153613285:T:A
Gene:: S100A16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.153613286T>A, NC_000001.10:g.153585762T>A

Select item 14906844424.

rs1490684442 has merged into rs1473751093 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:153612315 (GRCh38)
1:153584791 (GRCh37)
Canonical SPDI:: NC_000001.11:153612314:CCCCCC:CCCCC,NC_000001.11:153612314:CCCCCC:CCCCCCC
Gene:: S100A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.153612320del, NC_000001.11:g.153612320dup, NC_000001.10:g.153584796del, NC_000001.10:g.153584796dup

Select item 14895006835.

rs1489500683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:153606487 (GRCh38)
1:153578963 (GRCh37)
Canonical SPDI:: NC_000001.11:153606486:G:C,NC_000001.11:153606486:G:T
Gene:: S100A16 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.153606487G>C, NC_000001.11:g.153606487G>T, NC_000001.10:g.153578963G>C, NC_000001.10:g.153578963G>T

Select item 14890061776.

rs1489006177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:153608011 (GRCh38)
1:153580487 (GRCh37)
Canonical SPDI:: NC_000001.11:153608010:G:T
Gene:: S100A16 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153608011G>T, NC_000001.10:g.153580487G>T, NM_080388.3:c.141C>A, NM_080388.2:c.141C>A, NM_080388.1:c.141C>A, NR_133645.2:n.353C>A, NR_133645.1:n.384C>A, NM_001317008.2:c.141C>A, NM_001317008.1:c.141C>A, NM_001317007.1:c.141C>A, XM_047446559.1:c.141C>A, NP_525127.1:p.Asn47Lys, NP_001303937.1:p.Asn47Lys, NP_001303936.1:p.Asn47Lys, XP_047302515.1:p.Asn47Lys

Select item 14888665237.

rs1488866523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153607792 (GRCh38)
1:153580268 (GRCh37)
Canonical SPDI:: NC_000001.11:153607791:C:T
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.153607792C>T, NC_000001.10:g.153580268C>T

Select item 14887384028.

rs1488738402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153610150 (GRCh38)
1:153582626 (GRCh37)
Canonical SPDI:: NC_000001.11:153610149:C:T
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153610150C>T, NC_000001.10:g.153582626C>T

Select item 14886376159.

rs1488637615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:153611112 (GRCh38)
1:153583588 (GRCh37)
Canonical SPDI:: NC_000001.11:153611111:T:A,NC_000001.11:153611111:T:C
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.153611112T>A, NC_000001.11:g.153611112T>C, NC_000001.10:g.153583588T>A, NC_000001.10:g.153583588T>C

Select item 148862285910.

rs1488622859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAG>- [Show Flanks]
Chromosome:: 1:153614821 (GRCh38)
1:153587297 (GRCh37)
Canonical SPDI:: NC_000001.11:153614818:AGACAAG:AG
Gene:: S100A14 (Varview), S100A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.153614821_153614825del, NC_000001.10:g.153587297_153587301del, NM_020672.3:c.*62_*66del, NM_020672.2:c.*62_*66del, XM_005245362.2:c.*62_*66del, XM_005245362.1:c.*62_*66del

Select item 148820004911.

rs1488200049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153608709 (GRCh38)
1:153581185 (GRCh37)
Canonical SPDI:: NC_000001.11:153608708:C:T
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153608709C>T, NC_000001.10:g.153581185C>T, NG_082193.1:g.482C>T

Select item 148806319512.

rs1488063195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:153615028 (GRCh38)
1:153587504 (GRCh37)
Canonical SPDI:: NC_000001.11:153615027:G:C
Gene:: S100A14 (Varview), S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153615028G>C, NC_000001.10:g.153587504G>C

Select item 148773114913.

rs1487731149 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:153607478 (GRCh38)
1:153579954 (GRCh37)
Canonical SPDI:: NC_000001.11:153607477:A:
Gene:: S100A16 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153607478del, NC_000001.10:g.153579954del, NM_080388.3:c.*56del, NM_080388.2:c.*56del, NM_080388.1:c.*56del, NR_133645.2:n.606del, NR_133645.1:n.637del, NM_001317008.2:c.*56del, NM_001317008.1:c.*56del, NM_001317007.1:c.*56del, XM_047446559.1:c.*56del

Select item 148745324414.

rs1487453244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153610556 (GRCh38)
1:153583032 (GRCh37)
Canonical SPDI:: NC_000001.11:153610555:C:T
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153610556C>T, NC_000001.10:g.153583032C>T

Select item 148699697315.

rs1486996973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153611590 (GRCh38)
1:153584066 (GRCh37)
Canonical SPDI:: NC_000001.11:153611589:C:G
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153611590C>G, NC_000001.10:g.153584066C>G

Select item 148606739516.

rs1486067395 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:153610813 (GRCh38)
1:153583289 (GRCh37)
Canonical SPDI:: NC_000001.11:153610812:CCCC:CCC
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.153610816del, NC_000001.10:g.153583292del

Select item 148584004217.

rs1485840042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153613940 (GRCh38)
1:153586416 (GRCh37)
Canonical SPDI:: NC_000001.11:153613939:T:C
Gene:: S100A14 (Varview), S100A16 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.153613940T>C, NC_000001.10:g.153586416T>C

Select item 148567490218.

rs1485674902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153609763 (GRCh38)
1:153582239 (GRCh37)
Canonical SPDI:: NC_000001.11:153609762:T:C
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_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_000001.11:g.153609763T>C, NC_000001.10:g.153582239T>C

Select item 148513958219.

rs1485139582 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCCAGCCCT>- [Show Flanks]
Chromosome:: 1:153609749 (GRCh38)
1:153582225 (GRCh37)
Canonical SPDI:: NC_000001.11:153609745:CCTCCTTCCAGCCCT:CCT
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153609749_153609760del, NC_000001.10:g.153582225_153582236del

Select item 148503725020.

rs1485037250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:153610654 (GRCh38)
1:153583130 (GRCh37)
Canonical SPDI:: NC_000001.11:153610653:A:C
Gene:: S100A16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.153610654A>C, NC_000001.10:g.153583130A>C

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