SNP Links for Gene (Select 6782) - SNP

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Select item 14912894761.

rs1491289476 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:14375491 (GRCh38)
21:15747812 (GRCh37)
Canonical SPDI:: NC_000021.9:14375490:AT:
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000021.9:g.14375491_14375492del, NC_000021.8:g.15747812_15747813del

Select item 14911459412.

rs1491145941 has merged into rs34202425 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:14375502 (GRCh38)
21:15747823 (GRCh37)
Canonical SPDI:: NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:14375491:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.474/2374 (1000Genomes)
HGVS:: NC_000021.9:g.14375502_14375513del, NC_000021.9:g.14375506_14375513del, NC_000021.9:g.14375508_14375513del, NC_000021.9:g.14375509_14375513del, NC_000021.9:g.14375510_14375513del, NC_000021.9:g.14375511_14375513del, NC_000021.9:g.14375512_14375513del, NC_000021.9:g.14375513del, NC_000021.9:g.14375513dup, NC_000021.9:g.14375512_14375513dup, NC_000021.9:g.14375511_14375513dup, NC_000021.9:g.14375510_14375513dup, NC_000021.9:g.14375509_14375513dup, NC_000021.9:g.14375508_14375513dup, NC_000021.9:g.14375507_14375513dup, NC_000021.9:g.14375505_14375513dup, NC_000021.9:g.14375503_14375513dup, NC_000021.8:g.15747823_15747834del, NC_000021.8:g.15747827_15747834del, NC_000021.8:g.15747829_15747834del, NC_000021.8:g.15747830_15747834del, NC_000021.8:g.15747831_15747834del, NC_000021.8:g.15747832_15747834del, NC_000021.8:g.15747833_15747834del, NC_000021.8:g.15747834del, NC_000021.8:g.15747834dup, NC_000021.8:g.15747833_15747834dup, NC_000021.8:g.15747832_15747834dup, NC_000021.8:g.15747831_15747834dup, NC_000021.8:g.15747830_15747834dup, NC_000021.8:g.15747829_15747834dup, NC_000021.8:g.15747828_15747834dup, NC_000021.8:g.15747826_15747834dup, NC_000021.8:g.15747824_15747834dup

Select item 14910736313.

rs1491073631 has merged into rs11322033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:14378631 (GRCh38)
21:15750952 (GRCh37)
Canonical SPDI:: NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:14378624:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.20706/798 (ALSPAC)
TT=0.20766/770 (TWINSUK)
TT=0.3/12 (GENOME_DK)
T=0.3986/570 (1000Genomes)
HGVS:: NC_000021.9:g.14378631_14378637del, NC_000021.9:g.14378636_14378637del, NC_000021.9:g.14378637del, NC_000021.9:g.14378637dup, NC_000021.9:g.14378636_14378637dup, NC_000021.9:g.14378635_14378637dup, NC_000021.9:g.14378634_14378637dup, NC_000021.9:g.14378627_14378637dup, NC_000021.8:g.15750952_15750958del, NC_000021.8:g.15750957_15750958del, NC_000021.8:g.15750958del, NC_000021.8:g.15750958dup, NC_000021.8:g.15750957_15750958dup, NC_000021.8:g.15750956_15750958dup, NC_000021.8:g.15750955_15750958dup, NC_000021.8:g.15750948_15750958dup

Select item 14909084764.

rs1490908476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14381190 (GRCh38)
21:15753511 (GRCh37)
Canonical SPDI:: NC_000021.9:14381189:A:G
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.14381190A>G, NC_000021.8:g.15753511A>G

Select item 14907452645.

rs1490745264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14382239 (GRCh38)
21:15754560 (GRCh37)
Canonical SPDI:: NC_000021.9:14382238:T:C
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_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_000021.9:g.14382239T>C, NC_000021.8:g.15754560T>C

Select item 14905819466.

rs1490581946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:14381703 (GRCh38)
21:15754024 (GRCh37)
Canonical SPDI:: NC_000021.9:14381702:C:G
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14381703C>G, NC_000021.8:g.15754024C>G

Select item 14905365027.

rs1490536502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:14384733 (GRCh38)
21:15757054 (GRCh37)
Canonical SPDI:: NC_000021.9:14384732:G:A,NC_000021.9:14384732:G:C
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.14384733G>A, NC_000021.9:g.14384733G>C, NC_000021.8:g.15757054G>A, NC_000021.8:g.15757054G>C, XR_007067924.1:n.1968G>A, XR_007067924.1:n.1968G>C

Select item 14897379288.

rs1489737928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:14381073 (GRCh38)
21:15753394 (GRCh37)
Canonical SPDI:: NC_000021.9:14381072:T:C,NC_000021.9:14381072:T:G
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14381073T>C, NC_000021.9:g.14381073T>G, NC_000021.8:g.15753394T>C, NC_000021.8:g.15753394T>G

Select item 14895681999.

rs1489568199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14376759 (GRCh38)
21:15749080 (GRCh37)
Canonical SPDI:: NC_000021.9:14376758:T:C
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.14376759T>C, NC_000021.8:g.15749080T>C

Select item 148935541410.

rs1489355414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 21:14378630 (GRCh38)
21:15750951 (GRCh37)
Canonical SPDI:: NC_000021.9:14378629:T:A,NC_000021.9:14378629:T:G
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14378630T>A, NC_000021.9:g.14378630T>G, NC_000021.8:g.15750951T>A, NC_000021.8:g.15750951T>G

Select item 148929405011.

rs1489294050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:14379698 (GRCh38)
21:15752019 (GRCh37)
Canonical SPDI:: NC_000021.9:14379697:T:A
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.14379698T>A, NC_000021.8:g.15752019T>A

Select item 148911617212.

rs1489116172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:14381846 (GRCh38)
21:15754167 (GRCh37)
Canonical SPDI:: NC_000021.9:14381845:A:C
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.14381846A>C, NC_000021.8:g.15754167A>C

Select item 148849956513.

rs1488499565 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:14384677 (GRCh38)
21:15756998 (GRCh37)
Canonical SPDI:: NC_000021.9:14384676:CC:C
Gene:: HSPA13 (Varview), LOC105369304 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14384678del, NC_000021.8:g.15756999del, XR_007067924.1:n.1913del

Select item 148822070214.

rs1488220702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14371256 (GRCh38)
21:15743577 (GRCh37)
Canonical SPDI:: NC_000021.9:14371255:T:C
Gene:: HSPA13 (Varview)
Functional Consequence:: 3_prime_UTR_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_000021.9:g.14371256T>C, NC_000021.8:g.15743577T>C, NM_006948.5:c.*2361A>G, NM_006948.4:c.*2361A>G

Select item 148813499615.

rs1488134996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 21:14370755 (GRCh38)
21:15743076 (GRCh37)
Canonical SPDI:: NC_000021.9:14370753:TTT:T
Gene:: HSPA13 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.14370755_14370756del, NC_000021.8:g.15743076_15743077del

Select item 148777830616.

rs1487778306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:14380126 (GRCh38)
21:15752447 (GRCh37)
Canonical SPDI:: NC_000021.9:14380125:A:C
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.14380126A>C, NC_000021.8:g.15752447A>C

Select item 148767900617.

rs1487679006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14371797 (GRCh38)
21:15744118 (GRCh37)
Canonical SPDI:: NC_000021.9:14371796:T:C
Gene:: HSPA13 (Varview)
Functional Consequence:: 3_prime_UTR_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_000021.9:g.14371797T>C, NC_000021.8:g.15744118T>C, NM_006948.5:c.*1820A>G, NM_006948.4:c.*1820A>G

Select item 148765578518.

rs1487655785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:14379192 (GRCh38)
21:15751513 (GRCh37)
Canonical SPDI:: NC_000021.9:14379191:T:A,NC_000021.9:14379191:T:C
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.14379192T>A, NC_000021.9:g.14379192T>C, NC_000021.8:g.15751513T>A, NC_000021.8:g.15751513T>C

Select item 148754861819.

rs1487548618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14375016 (GRCh38)
21:15747337 (GRCh37)
Canonical SPDI:: NC_000021.9:14375015:C:T
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.14375016C>T, NC_000021.8:g.15747337C>T

Select item 148747915420.

rs1487479154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14379081 (GRCh38)
21:15751402 (GRCh37)
Canonical SPDI:: NC_000021.9:14379080:T:C
Gene:: HSPA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.14379081T>C, NC_000021.8:g.15751402T>C

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