SNP Links for Gene (Select 442132) - SNP

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Items: 1 to 20 of 2039

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Select item 14913984631.

rs1491398463 has merged into rs575354404 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:7302461 (GRCh38)
5:7302574 (GRCh37)
Canonical SPDI:: NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:7302449:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.7302461_7302467del, NC_000005.10:g.7302462_7302467del, NC_000005.10:g.7302464_7302467del, NC_000005.10:g.7302465_7302467del, NC_000005.10:g.7302466_7302467del, NC_000005.10:g.7302467del, NC_000005.10:g.7302467dup, NC_000005.10:g.7302466_7302467dup, NC_000005.10:g.7302465_7302467dup, NC_000005.10:g.7302464_7302467dup, NC_000005.10:g.7302463_7302467dup, NC_000005.10:g.7302462_7302467dup, NC_000005.10:g.7302461_7302467dup, NC_000005.10:g.7302460_7302467dup, NC_000005.10:g.7302459_7302467dup, NC_000005.9:g.7302574_7302580del, NC_000005.9:g.7302575_7302580del, NC_000005.9:g.7302577_7302580del, NC_000005.9:g.7302578_7302580del, NC_000005.9:g.7302579_7302580del, NC_000005.9:g.7302580del, NC_000005.9:g.7302580dup, NC_000005.9:g.7302579_7302580dup, NC_000005.9:g.7302578_7302580dup, NC_000005.9:g.7302577_7302580dup, NC_000005.9:g.7302576_7302580dup, NC_000005.9:g.7302575_7302580dup, NC_000005.9:g.7302574_7302580dup, NC_000005.9:g.7302573_7302580dup, NC_000005.9:g.7302572_7302580dup

Select item 14911152832.

rs1491115283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 5:7302450 (GRCh38)
5:7302564 (GRCh37)
Canonical SPDI:: NC_000005.10:7302450:TT:TTCTT
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.7302452_7302453insCTT, NC_000005.9:g.7302565_7302566insCTT

Select item 14909969973.

rs1490996997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:7302362 (GRCh38)
5:7302475 (GRCh37)
Canonical SPDI:: NC_000005.10:7302361:G:A,NC_000005.10:7302361:G:T
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.7302362G>A, NC_000005.10:g.7302362G>T, NC_000005.9:g.7302475G>A, NC_000005.9:g.7302475G>T

Select item 14909949724.

rs1490994972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7307671 (GRCh38)
5:7307784 (GRCh37)
Canonical SPDI:: NC_000005.10:7307670:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.7307671C>T, NC_000005.9:g.7307784C>T

Select item 14909244475.

rs1490924447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:7308374 (GRCh38)
5:7308487 (GRCh37)
Canonical SPDI:: NC_000005.10:7308373:G:A
Gene:: LOC442132 (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_000005.10:g.7308374G>A, NC_000005.9:g.7308487G>A

Select item 14905055576.

rs1490505557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:7307424 (GRCh38)
5:7307537 (GRCh37)
Canonical SPDI:: NC_000005.10:7307423:G:T
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.7307424G>T, NC_000005.9:g.7307537G>T

Select item 14903784107.

rs1490378410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:7304226 (GRCh38)
5:7304339 (GRCh37)
Canonical SPDI:: NC_000005.10:7304225:T:C
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_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_000005.10:g.7304226T>C, NC_000005.9:g.7304339T>C

Select item 14900733688.

rs1490073368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:7301318 (GRCh38)
5:7301431 (GRCh37)
Canonical SPDI:: NC_000005.10:7301317:C:A,NC_000005.10:7301317:C:G
Gene:: LOC442132 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.7301318C>A, NC_000005.10:g.7301318C>G, NC_000005.9:g.7301431C>A, NC_000005.9:g.7301431C>G

Select item 14900537839.

rs1490053783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7302484 (GRCh38)
5:7302597 (GRCh37)
Canonical SPDI:: NC_000005.10:7302483:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0016/7 (ALFA)
T=0.0051/15 (KOREAN)
HGVS:: NC_000005.10:g.7302484C>T, NC_000005.9:g.7302597C>T

Select item 148985334810.

rs1489853348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7301709 (GRCh38)
5:7301822 (GRCh37)
Canonical SPDI:: NC_000005.10:7301708:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.7301709C>T, NC_000005.9:g.7301822C>T

Select item 148967626111.

rs1489676261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:7301226 (GRCh38)
5:7301339 (GRCh37)
Canonical SPDI:: NC_000005.10:7301225:C:G,NC_000005.10:7301225:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003669/40 (ALFA)
G=0.00012/2 (TOMMO)
G=0.000232/26 (GnomAD)
G=0.129132/375 (KOREAN)
C=0.5/18 (SGDP_PRJ)
HGVS:: NC_000005.10:g.7301226C>G, NC_000005.10:g.7301226C>T, NC_000005.9:g.7301339C>G, NC_000005.9:g.7301339C>T

Select item 148918448612.

rs1489184486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:7306116 (GRCh38)
5:7306229 (GRCh37)
Canonical SPDI:: NC_000005.10:7306115:G:A
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.7306116G>A, NC_000005.9:g.7306229G>A

Select item 148907199813.

rs1489071998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7307857 (GRCh38)
5:7307970 (GRCh37)
Canonical SPDI:: NC_000005.10:7307856:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.7307857C>T, NC_000005.9:g.7307970C>T

Select item 148895926014.

rs1488959260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:7308105 (GRCh38)
5:7308218 (GRCh37)
Canonical SPDI:: NC_000005.10:7308104:T:A,NC_000005.10:7308104:T:C
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.7308105T>A, NC_000005.10:g.7308105T>C, NC_000005.9:g.7308218T>A, NC_000005.9:g.7308218T>C

Select item 148874406115.

rs1488744061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7308509 (GRCh38)
5:7308622 (GRCh37)
Canonical SPDI:: NC_000005.10:7308508:C:T
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000005.10:g.7308509C>T, NC_000005.9:g.7308622C>T

Select item 148855763616.

rs1488557636 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148805651917.

rs1488056519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:7302341 (GRCh38)
5:7302454 (GRCh37)
Canonical SPDI:: NC_000005.10:7302340:A:G
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7302341A>G, NC_000005.9:g.7302454A>G

Select item 148799840818.

rs1487998408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:7303071 (GRCh38)
5:7303184 (GRCh37)
Canonical SPDI:: NC_000005.10:7303070:A:C
Gene:: LOC442132 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7303071A>C, NC_000005.9:g.7303184A>C

Select item 148797662619.

rs1487976626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:7307342 (GRCh38)
5:7307455 (GRCh37)
Canonical SPDI:: NC_000005.10:7307341:A:C,NC_000005.10:7307341:A:G
Gene:: LOC442132 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.7307342A>C, NC_000005.10:g.7307342A>G, NC_000005.9:g.7307455A>C, NC_000005.9:g.7307455A>G

Select item 148790258220.

rs1487902582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:7302141 (GRCh38)
5:7302254 (GRCh37)
Canonical SPDI:: NC_000005.10:7302140:T:C
Gene:: LOC442132 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7302141T>C, NC_000005.9:g.7302254T>C, NR_033906.2:n.760A>G, NR_033906.1:n.760A>G, NM_001034846.1:c.-416A>G

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