SNP Links for Gene (Select 57704) - SNP

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Select item 14908605051.

rs1490860505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35749394 (GRCh38)
9:35749391 (GRCh37)
Canonical SPDI:: NC_000009.12:35749393:T:C
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.35749394T>C, NC_000009.11:g.35749391T>C, NG_033899.1:g.4835A>G, NM_001080496.3:c.-34T>C, NM_001080496.2:c.-34T>C, XR_007061382.1:n.108T>C, NM_014785.1:c.-34T>C, XR_007061383.1:n.108T>C

Select item 14908329112.

rs1490832911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:35740746 (GRCh38)
9:35740743 (GRCh37)
Canonical SPDI:: NC_000009.12:35740745:G:T
Gene:: GBA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35740746G>T, NC_000009.11:g.35740743G>T, NG_033899.1:g.13483C>A

Select item 14908156433.

rs1490815643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35741623 (GRCh38)
9:35741620 (GRCh37)
Canonical SPDI:: NC_000009.12:35741622:G:C
Gene:: GBA2 (Varview)
Functional Consequence:: 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_000009.12:g.35741623G>C, NC_000009.11:g.35741620G>C, NG_033899.1:g.12606C>G

Select item 14906685344.

rs1490668534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35741235 (GRCh38)
9:35741232 (GRCh37)
Canonical SPDI:: NC_000009.12:35741234:T:C
Gene:: GBA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.004808/1 (Vietnamese)
HGVS:: NC_000009.12:g.35741235T>C, NC_000009.11:g.35741232T>C, NG_033899.1:g.12994A>G

Select item 14902352505.

rs1490235250 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:35750187 (GRCh38)
9:35750184 (GRCh37)
Canonical SPDI:: NC_000009.12:35750186:AAA:AA
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35750189del, NC_000009.11:g.35750186del, NG_033899.1:g.4042del

Select item 14901805356.

rs1490180535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35743473 (GRCh38)
9:35743470 (GRCh37)
Canonical SPDI:: NC_000009.12:35743472:C:T
Gene:: GBA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.35743473C>T, NC_000009.11:g.35743470C>T, NG_033899.1:g.10756G>A

Select item 14900537917.

rs1490053791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:35746862 (GRCh38)
9:35746859 (GRCh37)
Canonical SPDI:: NC_000009.12:35746861:G:C,NC_000009.12:35746861:G:T
Gene:: GBA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.35746862G>C, NC_000009.12:g.35746862G>T, NC_000009.11:g.35746859G>C, NC_000009.11:g.35746859G>T, NG_033899.1:g.7367C>G, NG_033899.1:g.7367C>A

Select item 14898622078.

rs1489862207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35744021 (GRCh38)
9:35744018 (GRCh37)
Canonical SPDI:: NC_000009.12:35744020:T:C
Gene:: GBA2 (Varview)
Functional Consequence:: 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_000009.12:g.35744021T>C, NC_000009.11:g.35744018T>C, NG_033899.1:g.10208A>G

Select item 14898397449.

rs1489839744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35750289 (GRCh38)
9:35750286 (GRCh37)
Canonical SPDI:: NC_000009.12:35750288:G:A
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35750289G>A, NC_000009.11:g.35750286G>A, NG_033899.1:g.3940C>T, NM_001080496.3:c.163G>A, NM_001080496.2:c.163G>A, XR_007061382.1:n.304G>A, NM_014785.1:c.163G>A, XR_007061383.1:n.304G>A, NP_001073965.2:p.Ala55Thr

Select item 148962934010.

rs1489629340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:35749180 (GRCh38)
9:35749177 (GRCh37)
Canonical SPDI:: NC_000009.12:35749179:G:A,NC_000009.12:35749179:G:T
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000024/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35749180G>A, NC_000009.12:g.35749180G>T, NC_000009.11:g.35749177G>A, NC_000009.11:g.35749177G>T, NG_033899.1:g.5049C>T, NG_033899.1:g.5049C>A, NM_020944.3:c.-476C>T, NM_020944.3:c.-476C>A, NM_020944.2:c.-476C>T, NM_020944.2:c.-476C>A, NM_001330660.2:c.-476C>T, NM_001330660.2:c.-476C>A, NM_001330660.1:c.-476C>T, NM_001330660.1:c.-476C>A, XM_005251526.6:c.-476C>T, XM_005251526.6:c.-476C>A, XM_005251526.4:c.-476C>T, XM_005251526.4:c.-476C>A, XM_005251526.3:c.-476C>T, XM_005251526.3:c.-476C>A, XM_005251526.2:c.-476C>T, XM_005251526.2:c.-476C>A, XM_005251526.1:c.-476C>T, XM_005251526.1:c.-476C>A, XM_006716809.5:c.-476C>T, XM_006716809.5:c.-476C>A, XM_006716809.3:c.-476C>T, XM_006716809.3:c.-476C>A, XM_006716809.2:c.-476C>T, XM_006716809.2:c.-476C>A, XM_006716809.1:c.-476C>T, XM_006716809.1:c.-476C>A, XM_017014938.3:c.-476C>T, XM_017014938.3:c.-476C>A, XM_017014938.1:c.-476C>T, XM_017014938.1:c.-476C>A, XM_017014939.3:c.-476C>T, XM_017014939.3:c.-476C>A, XM_017014941.3:c.-476C>T, XM_017014941.3:c.-476C>A, XM_017014941.1:c.-476C>T, XM_017014941.1:c.-476C>A, XM_017014937.3:c.-476C>T, XM_017014937.3:c.-476C>A, XM_017014937.1:c.-476C>T, XM_017014937.1:c.-476C>A, XM_017014940.3:c.-476C>T, XM_017014940.3:c.-476C>A

Select item 148961409611.

rs1489614096 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTC>- [Show Flanks]
Chromosome:: 9:35740708 (GRCh38)
9:35740705 (GRCh37)
Canonical SPDI:: NC_000009.12:35740707:ACTC:
Gene:: GBA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000034/9 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000009.12:g.35740708_35740711del, NC_000009.11:g.35740705_35740708del, NG_033899.1:g.13518_13521del

Select item 148929006412.

rs1489290064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35738531 (GRCh38)
9:35738528 (GRCh37)
Canonical SPDI:: NC_000009.12:35738530:G:A
Gene:: GBA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.35738531G>A, NC_000009.11:g.35738528G>A, NG_033899.1:g.15698C>T, NM_020944.3:c.2049C>T, NM_020944.2:c.2049C>T, NM_001330660.2:c.2049C>T, NM_001330660.1:c.2049C>T, NG_046983.1:g.11212G>A, XM_005251526.6:c.2001C>T, XM_005251526.5:c.2001C>T, XM_005251526.4:c.2001C>T, XM_005251526.3:c.2001C>T, XM_005251526.2:c.2001C>T, XM_005251526.1:c.2001C>T, XM_006716809.5:c.2067C>T, XM_006716809.4:c.2067C>T, XM_006716809.3:c.2067C>T, XM_006716809.2:c.2067C>T, XM_006716809.1:c.2067C>T, XM_017014938.3:c.2067C>T, XM_017014938.2:c.2067C>T, XM_017014938.1:c.2067C>T, XM_017014939.3:c.1983C>T, XM_017014939.2:c.1983C>T, XM_017014939.1:c.1983C>T, XM_017014941.3:c.1830C>T, XM_017014941.2:c.1830C>T, XM_017014941.1:c.1830C>T, XM_017014937.3:c.1983C>T, XM_017014937.2:c.1983C>T, XM_017014937.1:c.1983C>T, XM_017014940.3:c.1830C>T, XM_017014940.2:c.1830C>T, XM_017014940.1:c.1830C>T, XM_017014942.3:c.1614C>T, XM_017014942.2:c.1614C>T, XM_017014942.1:c.1614C>T, XM_017014943.3:c.1596C>T, XM_017014943.2:c.1596C>T, XM_017014943.1:c.1596C>T, XM_047423612.1:c.1494C>T, XM_017014944.1:c.1512C>T, XM_017014945.1:c.1494C>T

Select item 148897025313.

rs1488970253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:35750090 (GRCh38)
9:35750087 (GRCh37)
Canonical SPDI:: NC_000009.12:35750089:C:G
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.35750090C>G, NC_000009.11:g.35750087C>G, NG_033899.1:g.4139G>C

Select item 148827411714.

rs1488274117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35740266 (GRCh38)
9:35740263 (GRCh37)
Canonical SPDI:: NC_000009.12:35740265:G:A
Gene:: GBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35740266G>A, NC_000009.11:g.35740263G>A, NG_033899.1:g.13963C>T, NM_020944.3:c.1226C>T, NM_020944.2:c.1226C>T, NM_001330660.2:c.1226C>T, NM_001330660.1:c.1226C>T, XM_005251526.6:c.1244C>T, XM_005251526.5:c.1244C>T, XM_005251526.4:c.1244C>T, XM_005251526.3:c.1244C>T, XM_005251526.2:c.1244C>T, XM_005251526.1:c.1244C>T, XM_006716809.5:c.1244C>T, XM_006716809.4:c.1244C>T, XM_006716809.3:c.1244C>T, XM_006716809.2:c.1244C>T, XM_006716809.1:c.1244C>T, XM_017014938.3:c.1244C>T, XM_017014938.2:c.1244C>T, XM_017014938.1:c.1244C>T, XM_017014939.3:c.1226C>T, XM_017014939.2:c.1226C>T, XM_017014939.1:c.1226C>T, XM_017014941.3:c.1007C>T, XM_017014941.2:c.1007C>T, XM_017014941.1:c.1007C>T, XM_017014937.3:c.1226C>T, XM_017014937.2:c.1226C>T, XM_017014937.1:c.1226C>T, XM_017014940.3:c.1007C>T, XM_017014940.2:c.1007C>T, XM_017014940.1:c.1007C>T, XM_017014942.3:c.791C>T, XM_017014942.2:c.791C>T, XM_017014942.1:c.791C>T, XM_017014943.3:c.773C>T, XM_017014943.2:c.773C>T, XM_017014943.1:c.773C>T, XM_047423612.1:c.671C>T, XM_017014944.1:c.689C>T, XM_017014945.1:c.671C>T, NP_065995.1:p.Ser409Leu, NP_001317589.1:p.Ser409Leu, XP_005251583.1:p.Ser415Leu, XP_006716872.1:p.Ser415Leu, XP_016870427.1:p.Ser415Leu, XP_016870428.1:p.Ser409Leu, XP_016870430.1:p.Ser336Leu, XP_016870426.1:p.Ser409Leu, XP_016870429.1:p.Ser336Leu, XP_016870431.1:p.Ser264Leu, XP_016870432.1:p.Ser258Leu, XP_047279568.1:p.Ser224Leu, XP_016870433.1:p.Ser230Leu, XP_016870434.1:p.Ser224Leu

Select item 148824140615.

rs1488241406 has merged into rs1042549418 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 9:35741333 (GRCh38)
9:35741330 (GRCh37)
Canonical SPDI:: NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:35741325:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: GBA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.35741333_35741340del, NC_000009.12:g.35741337_35741340del, NC_000009.12:g.35741338_35741340del, NC_000009.12:g.35741339_35741340del, NC_000009.12:g.35741340del, NC_000009.12:g.35741340dup, NC_000009.12:g.35741339_35741340dup, NC_000009.11:g.35741330_35741337del, NC_000009.11:g.35741334_35741337del, NC_000009.11:g.35741335_35741337del, NC_000009.11:g.35741336_35741337del, NC_000009.11:g.35741337del, NC_000009.11:g.35741337dup, NC_000009.11:g.35741336_35741337dup, NG_033899.1:g.12896_12903del, NG_033899.1:g.12900_12903del, NG_033899.1:g.12901_12903del, NG_033899.1:g.12902_12903del, NG_033899.1:g.12903del, NG_033899.1:g.12903dup, NG_033899.1:g.12902_12903dup

Select item 148793779516.

rs1487937795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:35744778 (GRCh38)
9:35744775 (GRCh37)
Canonical SPDI:: NC_000009.12:35744777:C:G,NC_000009.12:35744777:C:T
Gene:: GBA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.35744778C>G, NC_000009.12:g.35744778C>T, NC_000009.11:g.35744775C>G, NC_000009.11:g.35744775C>T, NG_033899.1:g.9451G>C, NG_033899.1:g.9451G>A

Select item 148767515817.

rs1487675158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:35746548 (GRCh38)
9:35746545 (GRCh37)
Canonical SPDI:: NC_000009.12:35746547:A:C
Gene:: GBA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.35746548A>C, NC_000009.11:g.35746545A>C, NG_033899.1:g.7681T>G

Select item 148766713818.

rs1487667138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35748026 (GRCh38)
9:35748023 (GRCh37)
Canonical SPDI:: NC_000009.12:35748025:A:G
Gene:: RGP1 (Varview), GBA2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.35748026A>G, NC_000009.11:g.35748023A>G, NG_033899.1:g.6203T>C

Select item 148691464119.

rs1486914641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35746306 (GRCh38)
9:35746303 (GRCh37)
Canonical SPDI:: NC_000009.12:35746305:C:T
Gene:: GBA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.35746306C>T, NC_000009.11:g.35746303C>T, NG_033899.1:g.7923G>A

Select item 148682328120.

rs1486823281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35744919 (GRCh38)
9:35744916 (GRCh37)
Canonical SPDI:: NC_000009.12:35744918:G:A
Gene:: GBA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000009.12:g.35744919G>A, NC_000009.11:g.35744916G>A, NG_033899.1:g.9310C>T

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