SNP Links for Protein (Select 767992232) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 422

<< First< Prev

Page of 22

Next >Last >>

Select item 14904771171.

rs1490477117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:3899722 (GRCh38)
17:3803016 (GRCh37)
Canonical SPDI:: NC_000017.11:3899721:G:C
Gene:: P2RX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3899722G>C, NC_000017.10:g.3803016G>C, NG_012109.1:g.21945C>G, NM_002558.4:c.787C>G, NM_002558.3:c.787C>G, XM_011523898.4:c.772C>G, XM_011523898.3:c.772C>G, XM_011523898.2:c.772C>G, XM_011523898.1:c.772C>G, XM_011523899.4:c.823C>G, XM_011523899.3:c.823C>G, XM_011523899.2:c.823C>G, XM_011523899.1:c.823C>G, XM_011523897.3:c.787C>G, XM_011523897.2:c.787C>G, XM_011523897.1:c.787C>G, XM_006721529.3:c.736C>G, XM_006721529.2:c.736C>G, XM_006721529.1:c.736C>G, XM_047436158.1:c.823C>G, XM_047436159.1:c.772C>G, XM_047436160.1:c.*44C>G, NP_002549.1:p.Leu263Val, XP_011522200.1:p.Leu258Val, XP_011522201.1:p.Leu275Val, XP_011522199.1:p.Leu263Val, XP_006721592.1:p.Leu246Val, XP_047292114.1:p.Leu275Val, XP_047292115.1:p.Leu258Val

Select item 14885309982.

rs1488530998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3903934 (GRCh38)
17:3807228 (GRCh37)
Canonical SPDI:: NC_000017.11:3903933:A:G
Gene:: P2RX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3903934A>G, NC_000017.10:g.3807228A>G, NG_012109.1:g.17733T>C, NM_002558.4:c.518T>C, NM_002558.3:c.518T>C, XM_011523898.4:c.554T>C, XM_011523898.3:c.554T>C, XM_011523898.2:c.554T>C, XM_011523898.1:c.554T>C, XM_011523899.4:c.554T>C, XM_011523899.3:c.554T>C, XM_011523899.2:c.554T>C, XM_011523899.1:c.554T>C, XM_011523900.4:c.554T>C, XM_011523900.3:c.554T>C, XM_011523900.2:c.554T>C, XM_011523900.1:c.554T>C, XM_011523897.3:c.518T>C, XM_011523897.2:c.518T>C, XM_011523897.1:c.518T>C, XM_006721529.3:c.518T>C, XM_006721529.2:c.518T>C, XM_006721529.1:c.518T>C, XM_047436158.1:c.554T>C, XM_047436159.1:c.554T>C, XM_047436160.1:c.554T>C, XM_047436161.1:c.554T>C, NP_002549.1:p.Ile173Thr, XP_011522200.1:p.Ile185Thr, XP_011522201.1:p.Ile185Thr, XP_011522202.1:p.Ile185Thr, XP_011522199.1:p.Ile173Thr, XP_006721592.1:p.Ile173Thr, XP_047292114.1:p.Ile185Thr, XP_047292115.1:p.Ile185Thr, XP_047292116.1:p.Ile185Thr, XP_047292117.1:p.Ile185Thr

Select item 14851668373.

rs1485166837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:3899654 (GRCh38)
17:3802948 (GRCh37)
Canonical SPDI:: NC_000017.11:3899653:G:C
Gene:: P2RX1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.3899654G>C, NC_000017.10:g.3802948G>C, NG_012109.1:g.22013C>G, NM_002558.4:c.855C>G, NM_002558.3:c.855C>G, XM_011523898.4:c.840C>G, XM_011523898.3:c.840C>G, XM_011523898.2:c.840C>G, XM_011523898.1:c.840C>G, XM_011523899.4:c.891C>G, XM_011523899.3:c.891C>G, XM_011523899.2:c.891C>G, XM_011523899.1:c.891C>G, XM_011523897.3:c.855C>G, XM_011523897.2:c.855C>G, XM_011523897.1:c.855C>G, XM_006721529.3:c.804C>G, XM_006721529.2:c.804C>G, XM_006721529.1:c.804C>G, XM_047436158.1:c.891C>G, XM_047436159.1:c.840C>G

Select item 14831433074.

rs1483143307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:3898955 (GRCh38)
17:3802249 (GRCh37)
Canonical SPDI:: NC_000017.11:3898954:A:C
Gene:: P2RX1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,terminator_codon_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3898955A>C, NC_000017.10:g.3802249A>C, NG_012109.1:g.22712T>G, NM_002558.4:c.945T>G, NM_002558.3:c.945T>G, XM_011523898.4:c.990T>G, XM_011523898.3:c.990T>G, XM_011523898.2:c.990T>G, XM_011523898.1:c.990T>G, XM_011523899.4:c.981T>G, XM_011523899.3:c.981T>G, XM_011523899.2:c.981T>G, XM_011523899.1:c.981T>G, XM_011523900.4:c.*74T>G, XM_011523900.3:c.*74T>G, XM_011523900.2:c.*74T>G, XM_011523900.1:c.*74T>G, XM_011523897.3:c.1005T>G, XM_011523897.2:c.1005T>G, XM_011523897.1:c.1005T>G, XM_006721529.3:c.894T>G, XM_006721529.2:c.894T>G, XM_006721529.1:c.894T>G, XM_047436158.1:c.1041T>G, XM_047436159.1:c.930T>G, XM_047436161.1:c.853T>G, NP_002549.1:p.Phe315Leu, XP_011522200.1:p.Phe330Leu, XP_011522201.1:p.Phe327Leu, XP_011522199.1:p.Phe335Leu, XP_006721592.1:p.Phe298Leu, XP_047292114.1:p.Phe347Leu, XP_047292115.1:p.Phe310Leu, XP_047292117.1:p.Ter285Gly

Select item 14816390855.

rs1481639085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3903319 (GRCh38)
17:3806613 (GRCh37)
Canonical SPDI:: NC_000017.11:3903318:A:G
Gene:: P2RX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.3903319A>G, NC_000017.10:g.3806613A>G, NG_012109.1:g.18348T>C, NM_002558.4:c.630T>C, NM_002558.3:c.630T>C, XM_011523898.4:c.615T>C, XM_011523898.3:c.615T>C, XM_011523898.2:c.615T>C, XM_011523898.1:c.615T>C, XM_011523899.4:c.666T>C, XM_011523899.3:c.666T>C, XM_011523899.2:c.666T>C, XM_011523899.1:c.666T>C, XM_011523900.4:c.838T>C, XM_011523900.3:c.838T>C, XM_011523900.2:c.838T>C, XM_011523900.1:c.838T>C, XM_011523897.3:c.630T>C, XM_011523897.2:c.630T>C, XM_011523897.1:c.630T>C, XM_006721529.3:c.579T>C, XM_006721529.2:c.579T>C, XM_006721529.1:c.579T>C, XM_047436158.1:c.666T>C, XM_047436159.1:c.615T>C, XM_047436160.1:c.838T>C, XM_047436161.1:c.666T>C, XP_011522202.1:p.Cys280Arg, XP_047292116.1:p.Cys280Arg

Select item 14796527226.

rs1479652722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3905246 (GRCh38)
17:3808540 (GRCh37)
Canonical SPDI:: NC_000017.11:3905245:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000033/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3905246C>T, NC_000017.10:g.3808540C>T, NG_012109.1:g.16421G>A, NM_002558.4:c.259G>A, NM_002558.3:c.259G>A, XM_011523898.4:c.295G>A, XM_011523898.3:c.295G>A, XM_011523898.2:c.295G>A, XM_011523898.1:c.295G>A, XM_011523899.4:c.295G>A, XM_011523899.3:c.295G>A, XM_011523899.2:c.295G>A, XM_011523899.1:c.295G>A, XM_011523900.4:c.295G>A, XM_011523900.3:c.295G>A, XM_011523900.2:c.295G>A, XM_011523900.1:c.295G>A, XM_011523897.3:c.259G>A, XM_011523897.2:c.259G>A, XM_011523897.1:c.259G>A, XM_006721529.3:c.259G>A, XM_006721529.2:c.259G>A, XM_006721529.1:c.259G>A, XM_047436158.1:c.295G>A, XM_047436159.1:c.295G>A, XM_047436160.1:c.295G>A, XM_047436161.1:c.295G>A, NP_002549.1:p.Val87Met, XP_011522200.1:p.Val99Met, XP_011522201.1:p.Val99Met, XP_011522202.1:p.Val99Met, XP_011522199.1:p.Val87Met, XP_006721592.1:p.Val87Met, XP_047292114.1:p.Val99Met, XP_047292115.1:p.Val99Met, XP_047292116.1:p.Val99Met, XP_047292117.1:p.Val99Met

Select item 14795441757.

rs1479544175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3905296 (GRCh38)
17:3808590 (GRCh37)
Canonical SPDI:: NC_000017.11:3905295:T:C
Gene:: P2RX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3905296T>C, NC_000017.10:g.3808590T>C, NG_012109.1:g.16371A>G, NM_002558.4:c.209A>G, NM_002558.3:c.209A>G, XM_011523898.4:c.245A>G, XM_011523898.3:c.245A>G, XM_011523898.2:c.245A>G, XM_011523898.1:c.245A>G, XM_011523899.4:c.245A>G, XM_011523899.3:c.245A>G, XM_011523899.2:c.245A>G, XM_011523899.1:c.245A>G, XM_011523900.4:c.245A>G, XM_011523900.3:c.245A>G, XM_011523900.2:c.245A>G, XM_011523900.1:c.245A>G, XM_011523897.3:c.209A>G, XM_011523897.2:c.209A>G, XM_011523897.1:c.209A>G, XM_006721529.3:c.209A>G, XM_006721529.2:c.209A>G, XM_006721529.1:c.209A>G, XM_047436158.1:c.245A>G, XM_047436159.1:c.245A>G, XM_047436160.1:c.245A>G, XM_047436161.1:c.245A>G, NP_002549.1:p.Lys70Arg, XP_011522200.1:p.Lys82Arg, XP_011522201.1:p.Lys82Arg, XP_011522202.1:p.Lys82Arg, XP_011522199.1:p.Lys70Arg, XP_006721592.1:p.Lys70Arg, XP_047292114.1:p.Lys82Arg, XP_047292115.1:p.Lys82Arg, XP_047292116.1:p.Lys82Arg, XP_047292117.1:p.Lys82Arg

Select item 14790547918.

rs1479054791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:3915484 (GRCh38)
17:3818778 (GRCh37)
Canonical SPDI:: NC_000017.11:3915483:G:A,NC_000017.11:3915483:G:C
Gene:: P2RX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.3915484G>A, NC_000017.11:g.3915484G>C, NC_000017.10:g.3818778G>A, NC_000017.10:g.3818778G>C, NG_012109.1:g.6183C>T, NG_012109.1:g.6183C>G, XM_011523898.4:c.75C>T, XM_011523898.4:c.75C>G, XM_011523898.3:c.75C>T, XM_011523898.3:c.75C>G, XM_011523898.2:c.75C>T, XM_011523898.2:c.75C>G, XM_011523898.1:c.75C>T, XM_011523898.1:c.75C>G, XM_011523899.4:c.75C>T, XM_011523899.4:c.75C>G, XM_011523899.3:c.75C>T, XM_011523899.3:c.75C>G, XM_011523899.2:c.75C>T, XM_011523899.2:c.75C>G, XM_011523899.1:c.75C>T, XM_011523899.1:c.75C>G, XM_011523900.4:c.75C>T, XM_011523900.4:c.75C>G, XM_011523900.3:c.75C>T, XM_011523900.3:c.75C>G, XM_011523900.2:c.75C>T, XM_011523900.2:c.75C>G, XM_011523900.1:c.75C>T, XM_011523900.1:c.75C>G, XM_047436158.1:c.75C>T, XM_047436158.1:c.75C>G, XM_047436159.1:c.75C>T, XM_047436159.1:c.75C>G, XM_047436160.1:c.75C>T, XM_047436160.1:c.75C>G, XM_047436161.1:c.75C>T, XM_047436161.1:c.75C>G

Select item 14740682379.

rs1474068237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3899030 (GRCh38)
17:3802324 (GRCh37)
Canonical SPDI:: NC_000017.11:3899029:G:A
Gene:: P2RX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3899030G>A, NC_000017.10:g.3802324G>A, NG_012109.1:g.22637C>T, XM_011523898.4:c.915C>T, XM_011523898.3:c.915C>T, XM_011523898.2:c.915C>T, XM_011523898.1:c.915C>T, XM_011523897.3:c.930C>T, XM_011523897.2:c.930C>T, XM_011523897.1:c.930C>T, XM_047436158.1:c.966C>T

Select item 147312997710.

rs1473129977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3898942 (GRCh38)
17:3802236 (GRCh37)
Canonical SPDI:: NC_000017.11:3898941:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3898942C>T, NC_000017.10:g.3802236C>T, NG_012109.1:g.22725G>A, NM_002558.4:c.958G>A, NM_002558.3:c.958G>A, XM_011523898.4:c.1003G>A, XM_011523898.3:c.1003G>A, XM_011523898.2:c.1003G>A, XM_011523898.1:c.1003G>A, XM_011523899.4:c.994G>A, XM_011523899.3:c.994G>A, XM_011523899.2:c.994G>A, XM_011523899.1:c.994G>A, XM_011523900.4:c.*87G>A, XM_011523900.3:c.*87G>A, XM_011523900.2:c.*87G>A, XM_011523897.3:c.1018G>A, XM_011523897.2:c.1018G>A, XM_011523897.1:c.1018G>A, XM_006721529.3:c.907G>A, XM_006721529.2:c.907G>A, XM_006721529.1:c.907G>A, XM_047436158.1:c.1054G>A, XM_047436159.1:c.943G>A, XM_047436161.1:c.*11G>A, NP_002549.1:p.Asp320Asn, XP_011522200.1:p.Asp335Asn, XP_011522201.1:p.Asp332Asn, XP_011522199.1:p.Asp340Asn, XP_006721592.1:p.Asp303Asn, XP_047292114.1:p.Asp352Asn, XP_047292115.1:p.Asp315Asn

Select item 147210961211.

rs1472109612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3898066 (GRCh38)
17:3801360 (GRCh37)
Canonical SPDI:: NC_000017.11:3898065:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.3898066C>T, NC_000017.10:g.3801360C>T, NG_012109.1:g.23601G>A, NM_002558.4:c.1077G>A, NM_002558.3:c.1077G>A, XM_011523898.4:c.1122G>A, XM_011523898.3:c.1122G>A, XM_011523898.2:c.1122G>A, XM_011523898.1:c.1122G>A, XM_011523899.4:c.1113G>A, XM_011523899.3:c.1113G>A, XM_011523899.2:c.1113G>A, XM_011523899.1:c.1113G>A, XM_011523897.3:c.1137G>A, XM_011523897.2:c.1137G>A, XM_011523897.1:c.1137G>A, XM_006721529.3:c.1026G>A, XM_006721529.2:c.1026G>A, XM_006721529.1:c.1026G>A, XM_047436158.1:c.1173G>A, XM_047436159.1:c.1062G>A

Select item 146995341512.

rs1469953415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:3915404 (GRCh38)
17:3818698 (GRCh37)
Canonical SPDI:: NC_000017.11:3915403:C:G
Gene:: P2RX1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3915404C>G, NC_000017.10:g.3818698C>G, NG_012109.1:g.6263G>C, XM_011523898.4:c.155G>C, XM_011523898.3:c.155G>C, XM_011523898.2:c.155G>C, XM_011523898.1:c.155G>C, XM_011523899.4:c.155G>C, XM_011523899.3:c.155G>C, XM_011523899.2:c.155G>C, XM_011523899.1:c.155G>C, XM_011523900.4:c.155G>C, XM_011523900.3:c.155G>C, XM_011523900.2:c.155G>C, XM_011523900.1:c.155G>C, XM_047436158.1:c.155G>C, XM_047436159.1:c.155G>C, XM_047436160.1:c.155G>C, XM_047436161.1:c.155G>C, XP_011522200.1:p.Trp52Ser, XP_011522201.1:p.Trp52Ser, XP_011522202.1:p.Trp52Ser, XP_047292114.1:p.Trp52Ser, XP_047292115.1:p.Trp52Ser, XP_047292116.1:p.Trp52Ser, XP_047292117.1:p.Trp52Ser

Select item 146721694613.

rs1467216946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3915520 (GRCh38)
17:3818814 (GRCh37)
Canonical SPDI:: NC_000017.11:3915519:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.3915520C>T, NC_000017.10:g.3818814C>T, NG_012109.1:g.6147G>A, XM_011523898.4:c.39G>A, XM_011523898.3:c.39G>A, XM_011523898.2:c.39G>A, XM_011523898.1:c.39G>A, XM_011523899.4:c.39G>A, XM_011523899.3:c.39G>A, XM_011523899.2:c.39G>A, XM_011523899.1:c.39G>A, XM_011523900.4:c.39G>A, XM_011523900.3:c.39G>A, XM_011523900.2:c.39G>A, XM_011523900.1:c.39G>A, XM_047436158.1:c.39G>A, XM_047436159.1:c.39G>A, XM_047436160.1:c.39G>A, XM_047436161.1:c.39G>A

Select item 146460794114.

rs1464607941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3898093 (GRCh38)
17:3801387 (GRCh37)
Canonical SPDI:: NC_000017.11:3898092:G:A
Gene:: P2RX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.3898093G>A, NC_000017.10:g.3801387G>A, NG_012109.1:g.23574C>T, NM_002558.4:c.1050C>T, NM_002558.3:c.1050C>T, XM_011523898.4:c.1095C>T, XM_011523898.3:c.1095C>T, XM_011523898.2:c.1095C>T, XM_011523898.1:c.1095C>T, XM_011523899.4:c.1086C>T, XM_011523899.3:c.1086C>T, XM_011523899.2:c.1086C>T, XM_011523899.1:c.1086C>T, XM_011523897.3:c.1110C>T, XM_011523897.2:c.1110C>T, XM_011523897.1:c.1110C>T, XM_006721529.3:c.999C>T, XM_006721529.2:c.999C>T, XM_006721529.1:c.999C>T, XM_047436158.1:c.1146C>T, XM_047436159.1:c.1035C>T

Select item 146225275115.

rs1462252751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:3905271 (GRCh38)
17:3808565 (GRCh37)
Canonical SPDI:: NC_000017.11:3905270:A:T
Gene:: P2RX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3905271A>T, NC_000017.10:g.3808565A>T, NG_012109.1:g.16396T>A, NM_002558.4:c.234T>A, NM_002558.3:c.234T>A, XM_011523898.4:c.270T>A, XM_011523898.3:c.270T>A, XM_011523898.2:c.270T>A, XM_011523898.1:c.270T>A, XM_011523899.4:c.270T>A, XM_011523899.3:c.270T>A, XM_011523899.2:c.270T>A, XM_011523899.1:c.270T>A, XM_011523900.4:c.270T>A, XM_011523900.3:c.270T>A, XM_011523900.2:c.270T>A, XM_011523900.1:c.270T>A, XM_011523897.3:c.234T>A, XM_011523897.2:c.234T>A, XM_011523897.1:c.234T>A, XM_006721529.3:c.234T>A, XM_006721529.2:c.234T>A, XM_006721529.1:c.234T>A, XM_047436158.1:c.270T>A, XM_047436159.1:c.270T>A, XM_047436160.1:c.270T>A, XM_047436161.1:c.270T>A

Select item 145963838516.

rs1459638385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3905360 (GRCh38)
17:3808654 (GRCh37)
Canonical SPDI:: NC_000017.11:3905359:A:G
Gene:: P2RX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.3905360A>G, NC_000017.10:g.3808654A>G, NG_012109.1:g.16307T>C, NM_002558.4:c.145T>C, NM_002558.3:c.145T>C, XM_011523898.4:c.181T>C, XM_011523898.3:c.181T>C, XM_011523898.2:c.181T>C, XM_011523898.1:c.181T>C, XM_011523899.4:c.181T>C, XM_011523899.3:c.181T>C, XM_011523899.2:c.181T>C, XM_011523899.1:c.181T>C, XM_011523900.4:c.181T>C, XM_011523900.3:c.181T>C, XM_011523900.2:c.181T>C, XM_011523900.1:c.181T>C, XM_011523897.3:c.145T>C, XM_011523897.2:c.145T>C, XM_011523897.1:c.145T>C, XM_006721529.3:c.145T>C, XM_006721529.2:c.145T>C, XM_006721529.1:c.145T>C, XM_047436158.1:c.181T>C, XM_047436159.1:c.181T>C, XM_047436160.1:c.181T>C, XM_047436161.1:c.181T>C, NP_002549.1:p.Phe49Leu, XP_011522200.1:p.Phe61Leu, XP_011522201.1:p.Phe61Leu, XP_011522202.1:p.Phe61Leu, XP_011522199.1:p.Phe49Leu, XP_006721592.1:p.Phe49Leu, XP_047292114.1:p.Phe61Leu, XP_047292115.1:p.Phe61Leu, XP_047292116.1:p.Phe61Leu, XP_047292117.1:p.Phe61Leu

Select item 145695559017.

rs1456955590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3903205 (GRCh38)
17:3806499 (GRCh37)
Canonical SPDI:: NC_000017.11:3903204:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.3903205C>T, NC_000017.10:g.3806499C>T, NG_012109.1:g.18462G>A, NM_002558.4:c.744G>A, NM_002558.3:c.744G>A, XM_011523898.4:c.729G>A, XM_011523898.3:c.729G>A, XM_011523898.2:c.729G>A, XM_011523898.1:c.729G>A, XM_011523899.4:c.780G>A, XM_011523899.3:c.780G>A, XM_011523899.2:c.780G>A, XM_011523899.1:c.780G>A, XM_011523900.4:c.*1G>A, XM_011523900.3:c.*1G>A, XM_011523900.2:c.*1G>A, XM_011523900.1:c.*1G>A, XM_011523897.3:c.744G>A, XM_011523897.2:c.744G>A, XM_011523897.1:c.744G>A, XM_006721529.3:c.693G>A, XM_006721529.2:c.693G>A, XM_006721529.1:c.693G>A, XM_047436158.1:c.780G>A, XM_047436159.1:c.729G>A, XM_047436160.1:c.*1G>A, XM_047436161.1:c.780G>A

Select item 145300534018.

rs1453005340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:3898985 (GRCh38)
17:3802279 (GRCh37)
Canonical SPDI:: NC_000017.11:3898984:A:C
Gene:: P2RX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3898985A>C, NC_000017.10:g.3802279A>C, NG_012109.1:g.22682T>G, NM_002558.4:c.915T>G, NM_002558.3:c.915T>G, XM_011523898.4:c.960T>G, XM_011523898.3:c.960T>G, XM_011523898.2:c.960T>G, XM_011523898.1:c.960T>G, XM_011523899.4:c.951T>G, XM_011523899.3:c.951T>G, XM_011523899.2:c.951T>G, XM_011523899.1:c.951T>G, XM_011523900.4:c.*44T>G, XM_011523900.3:c.*44T>G, XM_011523900.2:c.*44T>G, XM_011523900.1:c.*44T>G, XM_011523897.3:c.975T>G, XM_011523897.2:c.975T>G, XM_011523897.1:c.975T>G, XM_006721529.3:c.864T>G, XM_006721529.2:c.864T>G, XM_006721529.1:c.864T>G, XM_047436158.1:c.1011T>G, XM_047436159.1:c.900T>G, XM_047436161.1:c.823T>G, XP_047292117.1:p.Ser275Ala

Select item 145282744919.

rs1452827449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:3898494 (GRCh38)
17:3801788 (GRCh37)
Canonical SPDI:: NC_000017.11:3898493:A:T
Gene:: P2RX1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3898494A>T, NC_000017.10:g.3801788A>T, NG_012109.1:g.23173T>A, NM_002558.4:c.1022T>A, NM_002558.3:c.1022T>A, XM_011523898.4:c.1067T>A, XM_011523898.3:c.1067T>A, XM_011523898.2:c.1067T>A, XM_011523898.1:c.1067T>A, XM_011523899.4:c.1058T>A, XM_011523899.3:c.1058T>A, XM_011523899.2:c.1058T>A, XM_011523899.1:c.1058T>A, XM_011523897.3:c.1082T>A, XM_011523897.2:c.1082T>A, XM_011523897.1:c.1082T>A, XM_006721529.3:c.971T>A, XM_006721529.2:c.971T>A, XM_006721529.1:c.971T>A, XM_047436158.1:c.1118T>A, XM_047436159.1:c.1007T>A, XM_047436161.1:c.*75T>A, NP_002549.1:p.Ile341Asn, XP_011522200.1:p.Ile356Asn, XP_011522201.1:p.Ile353Asn, XP_011522199.1:p.Ile361Asn, XP_006721592.1:p.Ile324Asn, XP_047292114.1:p.Ile373Asn, XP_047292115.1:p.Ile336Asn

Select item 144861441020.

rs1448614410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3897843 (GRCh38)
17:3801137 (GRCh37)
Canonical SPDI:: NC_000017.11:3897842:C:T
Gene:: P2RX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3897843C>T, NC_000017.10:g.3801137C>T, NG_012109.1:g.23824G>A, NM_002558.4:c.1171G>A, NM_002558.3:c.1171G>A, XM_011523898.4:c.1216G>A, XM_011523898.3:c.1216G>A, XM_011523898.2:c.1216G>A, XM_011523898.1:c.1216G>A, XM_011523899.4:c.1207G>A, XM_011523899.3:c.1207G>A, XM_011523899.2:c.1207G>A, XM_011523899.1:c.1207G>A, XM_011523897.3:c.1231G>A, XM_011523897.2:c.1231G>A, XM_011523897.1:c.1231G>A, XM_006721529.3:c.1120G>A, XM_006721529.2:c.1120G>A, XM_006721529.1:c.1120G>A, XM_047436158.1:c.1267G>A, XM_047436159.1:c.1156G>A, NP_002549.1:p.Gly391Ser, XP_011522200.1:p.Gly406Ser, XP_011522201.1:p.Gly403Ser, XP_011522199.1:p.Gly411Ser, XP_006721592.1:p.Gly374Ser, XP_047292114.1:p.Gly423Ser, XP_047292115.1:p.Gly386Ser

<< First< Prev

Page of 22

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 767992232) (422)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: