SNP Links for Gene (Select 5030) - SNP

Links from Gene

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Select item 14914389371.

rs1491438937 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: X:70258950 (GRCh38)
X:69478800 (GRCh37)
Canonical SPDI:: NC_000023.11:70258949:AC:
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000023.11:g.70258950_70258951del, NC_000023.10:g.69478800_69478801del, NG_050734.1:g.448_449del, NG_013250.1:g.5854_5855del, NM_002565.4:c.674_675del, NM_002565.3:c.674_675del, NP_002556.1:p.Arg225fs

Select item 14898708202.

rs1489870820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:70261104 (GRCh38)
X:69480954 (GRCh37)
Canonical SPDI:: NC_000023.11:70261103:T:C
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.70261104T>C, NC_000023.10:g.69480954T>C, NG_050734.1:g.2602T>C, NG_013250.1:g.3701A>G

Select item 14884103683.

rs1488410368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:70260302 (GRCh38)
X:69480152 (GRCh37)
Canonical SPDI:: NC_000023.11:70260301:G:T
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70260302G>T, NC_000023.10:g.69480152G>T, NG_050734.1:g.1800G>T, NG_013250.1:g.4503C>A

Select item 14877691924.

rs1487769192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:70257683 (GRCh38)
X:69477533 (GRCh37)
Canonical SPDI:: NC_000023.11:70257682:C:G,NC_000023.11:70257682:C:T
Gene:: P2RY4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
T=0.000038/10 (TOPMED)
G=0.000077/8 (GnomAD)
HGVS:: NC_000023.11:g.70257683C>G, NC_000023.11:g.70257683C>T, NC_000023.10:g.69477533C>G, NC_000023.10:g.69477533C>T, NG_013250.1:g.7122G>C, NG_013250.1:g.7122G>A

Select item 14873777255.

rs1487377725 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:70258487 (GRCh38)
X:69478337 (GRCh37)
Canonical SPDI:: NC_000023.11:70258486:T:
Gene:: P2RY4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.70258487del, NC_000023.10:g.69478337del, NG_013250.1:g.6318del, NM_002565.4:c.*40del, NM_002565.3:c.*40del

Select item 14857494246.

rs1485749424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70258579 (GRCh38)
X:69478429 (GRCh37)
Canonical SPDI:: NC_000023.11:70258578:G:A
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000011/2 (GnomAD_exomes)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.70258579G>A, NC_000023.10:g.69478429G>A, NG_050734.1:g.77G>A, NG_013250.1:g.6226C>T, NM_002565.4:c.1046C>T, NM_002565.3:c.1046C>T, NP_002556.1:p.Ala349Val

Select item 14854098137.

rs1485409813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70258944 (GRCh38)
X:69478794 (GRCh37)
Canonical SPDI:: NC_000023.11:70258943:C:T
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.70258944C>T, NC_000023.10:g.69478794C>T, NG_050734.1:g.442C>T, NG_013250.1:g.5861G>A, NM_002565.4:c.681G>A, NM_002565.3:c.681G>A

Select item 14850521008.

rs1485052100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:70257794 (GRCh38)
X:69477644 (GRCh37)
Canonical SPDI:: NC_000023.11:70257793:C:G
Gene:: P2RY4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70257794C>G, NC_000023.10:g.69477644C>G, NG_013250.1:g.7011G>C

Select item 14828573579.

rs1482857357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:70261239 (GRCh38)
X:69481089 (GRCh37)
Canonical SPDI:: NC_000023.11:70261238:A:G
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.70261239A>G, NC_000023.10:g.69481089A>G, NG_050734.1:g.2737A>G, NG_013250.1:g.3566T>C

Select item 148248906810.

rs1482489068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70261327 (GRCh38)
X:69481177 (GRCh37)
Canonical SPDI:: NC_000023.11:70261326:G:A
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000068/7 (GnomAD)
HGVS:: NC_000023.11:g.70261327G>A, NC_000023.10:g.69481177G>A, NG_050734.1:g.2825G>A, NG_013250.1:g.3478C>T

Select item 148246099911.

rs1482460999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:70259141 (GRCh38)
X:69478991 (GRCh37)
Canonical SPDI:: NC_000023.11:70259140:C:G
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.70259141C>G, NC_000023.10:g.69478991C>G, NG_050734.1:g.639C>G, NG_013250.1:g.5664G>C, NM_002565.4:c.484G>C, NM_002565.3:c.484G>C, NP_002556.1:p.Val162Leu

Select item 148175240312.

rs1481752403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:70259113 (GRCh38)
X:69478963 (GRCh37)
Canonical SPDI:: NC_000023.11:70259112:A:G
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70259113A>G, NC_000023.10:g.69478963A>G, NG_050734.1:g.611A>G, NG_013250.1:g.5692T>C, NM_002565.4:c.512T>C, NM_002565.3:c.512T>C, NP_002556.1:p.Leu171Pro

Select item 148115991513.

rs1481159915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70260504 (GRCh38)
X:69480354 (GRCh37)
Canonical SPDI:: NC_000023.11:70260503:G:A
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70260504G>A, NC_000023.10:g.69480354G>A, NG_050734.1:g.2002G>A, NG_013250.1:g.4301C>T

Select item 148108396414.

rs1481083964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70259942 (GRCh38)
X:69479792 (GRCh37)
Canonical SPDI:: NC_000023.11:70259941:C:T
Gene:: P2RY4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70259942C>T, NC_000023.10:g.69479792C>T, NG_050734.1:g.1440C>T, NG_013250.1:g.4863G>A, NM_002565.4:c.-318G>A

Select item 148105553115.

rs1481055531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:70261420 (GRCh38)
X:69481270 (GRCh37)
Canonical SPDI:: NC_000023.11:70261419:C:A,NC_000023.11:70261419:C:T
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70261420C>A, NC_000023.11:g.70261420C>T, NC_000023.10:g.69481270C>A, NC_000023.10:g.69481270C>T, NG_050734.1:g.2918C>A, NG_050734.1:g.2918C>T, NG_013250.1:g.3385G>T, NG_013250.1:g.3385G>A

Select item 148061962716.

rs1480619627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:70258124 (GRCh38)
X:69477974 (GRCh37)
Canonical SPDI:: NC_000023.11:70258123:G:A,NC_000023.11:70258123:G:C
Gene:: P2RY4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.70258124G>A, NC_000023.11:g.70258124G>C, NC_000023.10:g.69477974G>A, NC_000023.10:g.69477974G>C, NG_013250.1:g.6681C>T, NG_013250.1:g.6681C>G

Select item 148020950417.

rs1480209504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:70259383 (GRCh38)
X:69479233 (GRCh37)
Canonical SPDI:: NC_000023.11:70259382:T:C
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70259383T>C, NC_000023.10:g.69479233T>C, NG_050734.1:g.881T>C, NG_013250.1:g.5422A>G, NM_002565.4:c.242A>G, NM_002565.3:c.242A>G, NP_002556.1:p.Asp81Gly

Select item 147938600418.

rs1479386004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:70261213 (GRCh38)
X:69481063 (GRCh37)
Canonical SPDI:: NC_000023.11:70261212:T:C
Gene:: P2RY4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.70261213T>C, NC_000023.10:g.69481063T>C, NG_050734.1:g.2711T>C, NG_013250.1:g.3592A>G

Select item 147700453519.

rs1477004535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:70259738 (GRCh38)
X:69479588 (GRCh37)
Canonical SPDI:: NC_000023.11:70259737:T:C
Gene:: P2RY4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70259738T>C, NC_000023.10:g.69479588T>C, NG_050734.1:g.1236T>C, NG_013250.1:g.5067A>G, NM_002565.4:c.-114A>G, NM_002565.3:c.-114A>G

Select item 147580372020.

rs1475803720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:70258808 (GRCh38)
X:69478658 (GRCh37)
Canonical SPDI:: NC_000023.11:70258807:G:T
Gene:: P2RY4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70258808G>T, NC_000023.10:g.69478658G>T, NG_050734.1:g.306G>T, NG_013250.1:g.5997C>A, NM_002565.4:c.817C>A, NM_002565.3:c.817C>A, NP_002556.1:p.Leu273Met

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