SNP Links for Gene (Select 5688) - SNP

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Select item 14909897351.

rs1490989735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:62136260 (GRCh38)
20:60711316 (GRCh37)
Canonical SPDI:: NC_000020.11:62136259:A:C,NC_000020.11:62136259:A:T
Gene:: PSMA7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62136260A>C, NC_000020.11:g.62136260A>T, NC_000020.10:g.60711316A>C, NC_000020.10:g.60711316A>T, NG_046998.1:g.12199T>G, NG_046998.1:g.12199T>A

Select item 14909645532.

rs1490964553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62137004 (GRCh38)
20:60712060 (GRCh37)
Canonical SPDI:: NC_000020.11:62137003:C:T
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62137004C>T, NC_000020.10:g.60712060C>T, NG_046998.1:g.11455G>A

Select item 14908346553.

rs1490834655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62143115 (GRCh38)
20:60718171 (GRCh37)
Canonical SPDI:: NC_000020.11:62143114:C:T
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62143115C>T, NC_000020.10:g.60718171C>T, NG_034255.1:g.4396C>T, NG_046998.1:g.5344G>A

Select item 14905378104.

rs1490537810 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 20:62137356 (GRCh38)
20:60712412 (GRCh37)
Canonical SPDI:: NC_000020.11:62137353:TGGTG:TG
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62137356_62137358del, NC_000020.10:g.60712412_60712414del, NG_046998.1:g.11103_11105del

Select item 14904726405.

rs1490472640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:62136673 (GRCh38)
20:60711729 (GRCh37)
Canonical SPDI:: NC_000020.11:62136672:G:A,NC_000020.11:62136672:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62136673G>A, NC_000020.11:g.62136673G>C, NC_000020.10:g.60711729G>A, NC_000020.10:g.60711729G>C, NG_046998.1:g.11786C>T, NG_046998.1:g.11786C>G

Select item 14899684066.

rs1489968406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62142988 (GRCh38)
20:60718044 (GRCh37)
Canonical SPDI:: NC_000020.11:62142987:G:A
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.62142988G>A, NC_000020.10:g.60718044G>A, NG_034255.1:g.4269G>A, NG_046998.1:g.5471C>T

Select item 14899527297.

rs1489952729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62144265 (GRCh38)
20:60719321 (GRCh37)
Canonical SPDI:: NC_000020.11:62144264:C:A,NC_000020.11:62144264:C:T
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.62144265C>A, NC_000020.11:g.62144265C>T, NC_000020.10:g.60719321C>A, NC_000020.10:g.60719321C>T, NG_034255.1:g.5546C>A, NG_034255.1:g.5546C>T, NG_046998.1:g.4194G>T, NG_046998.1:g.4194G>A

Select item 14896858948.

rs1489685894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62144183 (GRCh38)
20:60719239 (GRCh37)
Canonical SPDI:: NC_000020.11:62144182:G:A
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_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_000020.11:g.62144183G>A, NC_000020.10:g.60719239G>A, NG_034255.1:g.5464G>A, NG_046998.1:g.4276C>T

Select item 14896400099.

rs1489640009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62138289 (GRCh38)
20:60713345 (GRCh37)
Canonical SPDI:: NC_000020.11:62138288:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.62138289G>C, NC_000020.10:g.60713345G>C, NG_046998.1:g.10170C>G, NM_002792.4:c.473C>G, NM_002792.3:c.473C>G, NM_152255.1:c.*57C>G, NP_002783.1:p.Ala158Gly

Select item 148921827510.

rs1489218275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62142827 (GRCh38)
20:60717883 (GRCh37)
Canonical SPDI:: NC_000020.11:62142826:G:C
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62142827G>C, NC_000020.10:g.60717883G>C, NG_034255.1:g.4108G>C, NG_046998.1:g.5632C>G

Select item 148888735511.

rs1488887355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62141360 (GRCh38)
20:60716416 (GRCh37)
Canonical SPDI:: NC_000020.11:62141359:T:C
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62141360T>C, NC_000020.10:g.60716416T>C, NG_034255.1:g.2641T>C, NG_046998.1:g.7099A>G

Select item 148877749012.

rs1488777490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62140408 (GRCh38)
20:60715464 (GRCh37)
Canonical SPDI:: NC_000020.11:62140407:G:A
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000020.11:g.62140408G>A, NC_000020.10:g.60715464G>A, NG_034255.1:g.1689G>A, NG_046998.1:g.8051C>T

Select item 148834757913.

rs1488347579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62140074 (GRCh38)
20:60715130 (GRCh37)
Canonical SPDI:: NC_000020.11:62140073:T:C
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.62140074T>C, NC_000020.10:g.60715130T>C, NG_034255.1:g.1355T>C, NG_046998.1:g.8385A>G

Select item 148820007214.

rs1488200072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62143425 (GRCh38)
20:60718481 (GRCh37)
Canonical SPDI:: NC_000020.11:62143424:G:C
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62143425G>C, NC_000020.10:g.60718481G>C, NG_034255.1:g.4706G>C, NG_046998.1:g.5034C>G, NM_002792.3:c.-122C>G

Select item 148809616415.

rs1488096164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:62139457 (GRCh38)
20:60714513 (GRCh37)
Canonical SPDI:: NC_000020.11:62139456:C:A
Gene:: PSMA7 (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_000020.11:g.62139457C>A, NC_000020.10:g.60714513C>A, NG_034255.1:g.738C>A, NG_046998.1:g.9002G>T

Select item 148804561416.

rs1488045614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62140323 (GRCh38)
20:60715379 (GRCh37)
Canonical SPDI:: NC_000020.11:62140322:G:A
Gene:: PSMA7 (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_000020.11:g.62140323G>A, NC_000020.10:g.60715379G>A, NG_034255.1:g.1604G>A, NG_046998.1:g.8136C>T

Select item 148779335417.

rs1487793354 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 20:62140068 (GRCh38)
20:60715124 (GRCh37)
Canonical SPDI:: NC_000020.11:62140067:A:
Gene:: PSMA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.62140068del, NC_000020.10:g.60715124del, NG_034255.1:g.1349del, NG_046998.1:g.8391del

Select item 148752823218.

rs1487528232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:62145325 (GRCh38)
20:60720381 (GRCh37)
Canonical SPDI:: NC_000020.11:62145324:C:G
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62145325C>G, NC_000020.10:g.60720381C>G, NG_034255.1:g.6606C>G, NG_046998.1:g.3134G>C

Select item 148735691519.

rs1487356915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62143332 (GRCh38)
20:60718388 (GRCh37)
Canonical SPDI:: NC_000020.11:62143331:G:A
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.62143332G>A, NC_000020.10:g.60718388G>A, NG_034255.1:g.4613G>A, NG_046998.1:g.5127C>T, NM_002792.4:c.-29C>T, NM_002792.3:c.-29C>T, NM_152255.1:c.-29C>T

Select item 148630888420.

rs1486308884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:62144224 (GRCh38)
20:60719280 (GRCh37)
Canonical SPDI:: NC_000020.11:62144223:G:A,NC_000020.11:62144223:G:C,NC_000020.11:62144223:G:T
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62144224G>A, NC_000020.11:g.62144224G>C, NC_000020.11:g.62144224G>T, NC_000020.10:g.60719280G>A, NC_000020.10:g.60719280G>C, NC_000020.10:g.60719280G>T, NG_034255.1:g.5505G>A, NG_034255.1:g.5505G>C, NG_034255.1:g.5505G>T, NG_046998.1:g.4235C>T, NG_046998.1:g.4235C>G, NG_046998.1:g.4235C>A

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