SNP Links for Gene (Select 11315) - SNP

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Select item 14915718131.

rs1491571813 has merged into rs34698566 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:7978405 (GRCh38)
1:8038465 (GRCh37)
Canonical SPDI:: NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:7978392:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.0008/4 (ALFA)
TT=0.4113/2060 (1000Genomes)
TT=0.4984/1921 (ALSPAC)
HGVS:: NC_000001.11:g.7978405_7978408del, NC_000001.11:g.7978406_7978408del, NC_000001.11:g.7978407_7978408del, NC_000001.11:g.7978408del, NC_000001.11:g.7978408dup, NC_000001.11:g.7978407_7978408dup, NC_000001.11:g.7978401_7978408dup, NC_000001.10:g.8038465_8038468del, NC_000001.10:g.8038466_8038468del, NC_000001.10:g.8038467_8038468del, NC_000001.10:g.8038468del, NC_000001.10:g.8038468dup, NC_000001.10:g.8038467_8038468dup, NC_000001.10:g.8038461_8038468dup, NG_008271.1:g.21752_21755del, NG_008271.1:g.21753_21755del, NG_008271.1:g.21754_21755del, NG_008271.1:g.21755del, NG_008271.1:g.21755dup, NG_008271.1:g.21754_21755dup, NG_008271.1:g.21748_21755dup

Select item 14914842152.

rs1491484215 has merged into rs371300988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:7969454 (GRCh38)
1:8029514 (GRCh37)
Canonical SPDI:: NC_000001.11:7969450:AAAAA:AAA,NC_000001.11:7969450:AAAAA:AAAA,NC_000001.11:7969450:AAAAA:AAAAAA,NC_000001.11:7969450:AAAAA:AAAAAAA
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.00022/5 (ALFA)
-=0.34483/10 (1000Genomes)
HGVS:: NC_000001.11:g.7969454_7969455del, NC_000001.11:g.7969455del, NC_000001.11:g.7969455dup, NC_000001.11:g.7969454_7969455dup, NC_000001.10:g.8029514_8029515del, NC_000001.10:g.8029515del, NC_000001.10:g.8029515dup, NC_000001.10:g.8029514_8029515dup, NG_008271.1:g.12801_12802del, NG_008271.1:g.12802del, NG_008271.1:g.12802dup, NG_008271.1:g.12801_12802dup

Select item 14911679273.

rs1491167927 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:7978392 (GRCh38)
1:8038452 (GRCh37)
Canonical SPDI:: NC_000001.11:7978391:GT:
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000001.11:g.7978392_7978393del, NC_000001.10:g.8038452_8038453del, NG_008271.1:g.21739_21740del

Select item 14909757954.

rs1490975795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7970409 (GRCh38)
1:8030469 (GRCh37)
Canonical SPDI:: NC_000001.11:7970408:G:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_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.7970409G>A, NC_000001.10:g.8030469G>A, NG_008271.1:g.13756G>A

Select item 14906827235.

rs1490682723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:7981600 (GRCh38)
1:8041660 (GRCh37)
Canonical SPDI:: NC_000001.11:7981599:G:A,NC_000001.11:7981599:G:C
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.7981600G>A, NC_000001.11:g.7981600G>C, NC_000001.10:g.8041660G>A, NC_000001.10:g.8041660G>C, NG_008271.1:g.24947G>A, NG_008271.1:g.24947G>C

Select item 14906695746.

rs1490669574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7962795 (GRCh38)
1:8022855 (GRCh37)
Canonical SPDI:: NC_000001.11:7962794:A:G
Gene:: PARK7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.7962795A>G, NC_000001.10:g.8022855A>G, NG_008271.1:g.6142A>G, NM_007262.5:c.10A>G, NM_007262.4:c.10A>G, NM_001123377.2:c.10A>G, NM_001123377.1:c.10A>G, XM_005263424.4:c.10A>G, XM_005263424.3:c.10A>G, XM_005263424.2:c.10A>G, XM_005263424.1:c.10A>G, NP_009193.2:p.Lys4Glu, NP_001116849.1:p.Lys4Glu, XP_005263481.1:p.Lys4Glu

Select item 14905395297.

rs1490539529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:7976044 (GRCh38)
1:8036104 (GRCh37)
Canonical SPDI:: NC_000001.11:7976043:T:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.7976044T>A, NC_000001.10:g.8036104T>A, NG_008271.1:g.19391T>A

Select item 14905040658.

rs1490504065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:7982521 (GRCh38)
1:8042581 (GRCh37)
Canonical SPDI:: NC_000001.11:7982520:C:G,NC_000001.11:7982520:C:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.7982521C>G, NC_000001.11:g.7982521C>T, NC_000001.10:g.8042581C>G, NC_000001.10:g.8042581C>T, NG_008271.1:g.25868C>G, NG_008271.1:g.25868C>T

Select item 14904656979.

rs1490465697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7969458 (GRCh38)
1:8029518 (GRCh37)
Canonical SPDI:: NC_000001.11:7969457:A:G
Gene:: PARK7 (Varview)
Functional Consequence:: 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_000001.11:g.7969458A>G, NC_000001.10:g.8029518A>G, NG_008271.1:g.12805A>G

Select item 149037326510.

rs1490373265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7963936 (GRCh38)
1:8023996 (GRCh37)
Canonical SPDI:: NC_000001.11:7963935:C:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7963936C>T, NC_000001.10:g.8023996C>T, NG_008271.1:g.7283C>T

Select item 149025092611.

rs1490250926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:7977860 (GRCh38)
1:8037920 (GRCh37)
Canonical SPDI:: NC_000001.11:7977859:A:G,NC_000001.11:7977859:A:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.7977860A>G, NC_000001.11:g.7977860A>T, NC_000001.10:g.8037920A>G, NC_000001.10:g.8037920A>T, NG_008271.1:g.21207A>G, NG_008271.1:g.21207A>T

Select item 149023263712.

rs1490232637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:7965369 (GRCh38)
1:8025429 (GRCh37)
Canonical SPDI:: NC_000001.11:7965368:T:C
Gene:: PARK7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.7965369T>C, NC_000001.10:g.8025429T>C, NG_008271.1:g.8716T>C, NM_007262.5:c.136T>C, NM_007262.4:c.136T>C, NM_001123377.2:c.136T>C, NM_001123377.1:c.136T>C, XM_005263424.4:c.136T>C, XM_005263424.3:c.136T>C, XM_005263424.2:c.136T>C, XM_005263424.1:c.136T>C, NP_009193.2:p.Cys46Arg, NP_001116849.1:p.Cys46Arg, XP_005263481.1:p.Cys46Arg

Select item 149020748913.

rs1490207489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7964273 (GRCh38)
1:8024333 (GRCh37)
Canonical SPDI:: NC_000001.11:7964272:G:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_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.7964273G>A, NC_000001.10:g.8024333G>A, NG_008271.1:g.7620G>A

Select item 149019215714.

rs1490192157 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:7982167 (GRCh38)
1:8042227 (GRCh37)
Canonical SPDI:: NC_000001.11:7982166:A:
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.7982167del, NC_000001.10:g.8042227del, NG_008271.1:g.25514del

Select item 149009019315.

rs1490090193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:7968062 (GRCh38)
1:8028122 (GRCh37)
Canonical SPDI:: NC_000001.11:7968061:C:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000122/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.7968062C>A, NC_000001.10:g.8028122C>A, NG_008271.1:g.11409C>A

Select item 149002521516.

rs1490025215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7971707 (GRCh38)
1:8031767 (GRCh37)
Canonical SPDI:: NC_000001.11:7971706:C:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.7971707C>T, NC_000001.10:g.8031767C>T, NG_008271.1:g.15054C>T

Select item 148995315617.

rs1489953156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7969074 (GRCh38)
1:8029134 (GRCh37)
Canonical SPDI:: NC_000001.11:7969073:G:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_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_000001.11:g.7969074G>A, NC_000001.10:g.8029134G>A, NG_008271.1:g.12421G>A

Select item 148990305218.

rs1489903052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7967197 (GRCh38)
1:8027257 (GRCh37)
Canonical SPDI:: NC_000001.11:7967196:C:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7967197C>T, NC_000001.10:g.8027257C>T, NG_008271.1:g.10544C>T

Select item 148978651519.

rs1489786515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7971384 (GRCh38)
1:8031444 (GRCh37)
Canonical SPDI:: NC_000001.11:7971383:C:T
Gene:: PARK7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.7971384C>T, NC_000001.10:g.8031444C>T, NG_008271.1:g.14731C>T

Select item 148969789620.

rs1489697896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7964828 (GRCh38)
1:8024888 (GRCh37)
Canonical SPDI:: NC_000001.11:7964827:G:A
Gene:: PARK7 (Varview)
Functional Consequence:: intron_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.7964828G>A, NC_000001.10:g.8024888G>A, NG_008271.1:g.8175G>A

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