SNP Links for Gene (Select 84722) - SNP

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Select item 14910980011.

rs1491098001 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 1:109279217 (GRCh38)
1:109821839 (GRCh37)
Canonical SPDI:: NC_000001.11:109279213:AGAGA:AGA,NC_000001.11:109279213:AGAGA:AGAGAGA
Gene:: PSRC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.109279215GA[1], NC_000001.11:g.109279215GA[3], NC_000001.10:g.109821837GA[1], NC_000001.10:g.109821837GA[3]

Select item 14910389272.

rs1491038927 has merged into rs386368024 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109279200 (GRCh38)
1:109821822 (GRCh37)
Canonical SPDI:: NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSRC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.109279200_109279214del, NC_000001.11:g.109279202_109279214del, NC_000001.11:g.109279203_109279214del, NC_000001.11:g.109279204_109279214del, NC_000001.11:g.109279205_109279214del, NC_000001.11:g.109279206_109279214del, NC_000001.11:g.109279207_109279214del, NC_000001.11:g.109279208_109279214del, NC_000001.11:g.109279209_109279214del, NC_000001.11:g.109279210_109279214del, NC_000001.11:g.109279211_109279214del, NC_000001.11:g.109279212_109279214del, NC_000001.11:g.109279213_109279214del, NC_000001.11:g.109279214del, NC_000001.11:g.109279214dup, NC_000001.11:g.109279213_109279214dup, NC_000001.11:g.109279212_109279214dup, NC_000001.11:g.109279211_109279214dup, NC_000001.11:g.109279210_109279214dup, NC_000001.11:g.109279209_109279214dup, NC_000001.11:g.109279208_109279214dup, NC_000001.11:g.109279207_109279214dup, NC_000001.11:g.109279206_109279214dup, NC_000001.11:g.109279205_109279214dup, NC_000001.10:g.109821822_109821836del, NC_000001.10:g.109821824_109821836del, NC_000001.10:g.109821825_109821836del, NC_000001.10:g.109821826_109821836del, NC_000001.10:g.109821827_109821836del, NC_000001.10:g.109821828_109821836del, NC_000001.10:g.109821829_109821836del, NC_000001.10:g.109821830_109821836del, NC_000001.10:g.109821831_109821836del, NC_000001.10:g.109821832_109821836del, NC_000001.10:g.109821833_109821836del, NC_000001.10:g.109821834_109821836del, NC_000001.10:g.109821835_109821836del, NC_000001.10:g.109821836del, NC_000001.10:g.109821836dup, NC_000001.10:g.109821835_109821836dup, NC_000001.10:g.109821834_109821836dup, NC_000001.10:g.109821833_109821836dup, NC_000001.10:g.109821832_109821836dup, NC_000001.10:g.109821831_109821836dup, NC_000001.10:g.109821830_109821836dup, NC_000001.10:g.109821829_109821836dup, NC_000001.10:g.109821828_109821836dup, NC_000001.10:g.109821827_109821836dup

Select item 14904321333.

rs1490432133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109281222 (GRCh38)
1:109823844 (GRCh37)
Canonical SPDI:: NC_000001.11:109281221:T:C
Gene:: PSRC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109281222T>C, NC_000001.10:g.109823844T>C, NM_032636.8:c.549A>G, NM_032636.7:c.549A>G, XM_005271283.4:c.549A>G, XM_005271283.3:c.549A>G, XM_005271283.2:c.549A>G, XM_005271283.1:c.549A>G, NM_001005290.4:c.549A>G, NM_001005290.3:c.549A>G, XM_017002560.3:c.549A>G, XM_017002560.2:c.549A>G, XM_017002560.1:c.549A>G, NM_001032291.3:c.549A>G, NM_001032291.2:c.549A>G, NM_001350237.2:c.549A>G, NM_001350237.1:c.549A>G, XM_017002563.2:c.549A>G, XM_017002563.1:c.549A>G, XM_017002562.2:c.549A>G, XM_017002562.1:c.549A>G, XM_017002566.2:c.549A>G, XM_017002566.1:c.549A>G, XM_017002567.2:c.549A>G, XM_017002567.1:c.549A>G, XM_017002564.2:c.549A>G, XM_017002564.1:c.549A>G, NM_001363309.2:c.549A>G, NM_001363309.1:c.549A>G, XM_017002569.2:c.549A>G, XM_017002569.1:c.549A>G, XM_017002570.2:c.549A>G, XM_017002570.1:c.549A>G, NM_001350241.2:c.549A>G, NM_001350241.1:c.549A>G, NM_001350238.2:c.549A>G, NM_001350238.1:c.549A>G, NM_001350239.2:c.549A>G, NM_001350239.1:c.549A>G, NM_001350240.2:c.549A>G, NM_001350240.1:c.549A>G, NM_001350242.2:c.549A>G, NM_001350242.1:c.549A>G, XM_047432251.1:c.549A>G, NM_001032290.1:c.549A>G, XM_047432264.1:c.549A>G, NM_001394005.1:c.549A>G, XM_047432255.1:c.549A>G, XM_047432272.1:c.549A>G, XM_047432274.1:c.549A>G, NM_001394002.1:c.549A>G, NM_001394004.1:c.549A>G, XM_047432275.1:c.549A>G, XM_047432294.1:c.549A>G, NM_001394003.1:c.549A>G, XM_047432277.1:c.549A>G, XM_047432284.1:c.549A>G

Select item 14903515474.

rs1490351547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109279107 (GRCh38)
1:109821729 (GRCh37)
Canonical SPDI:: NC_000001.11:109279106:C:T
Gene:: PSRC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109279107C>T, NC_000001.10:g.109821729C>T

Select item 14895388725.

rs1489538872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109283933 (GRCh38)
1:109826555 (GRCh37)
Canonical SPDI:: NC_000001.11:109283932:G:A
Gene:: PSRC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109283933G>A, NC_000001.10:g.109826555G>A

Select item 14893843116.

rs1489384311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109284949 (GRCh38)
1:109827571 (GRCh37)
Canonical SPDI:: NC_000001.11:109284948:G:A
Gene:: PSRC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109284949G>A, NC_000001.10:g.109827571G>A

Select item 14880543777.

rs1488054377 [Homo sapiens]

Variant type:: DEL
Alleles:: GTGG>- [Show Flanks]
Chromosome:: 1:109281286 (GRCh38)
1:109823908 (GRCh37)
Canonical SPDI:: NC_000001.11:109281285:GTGG:
Gene:: PSRC1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.109281286_109281289del, NC_000001.10:g.109823908_109823911del

Select item 14874317968.

rs1487431796 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:109284120 (GRCh38)
1:109826743 (GRCh37)
Canonical SPDI:: NC_000001.11:109284120:TT:TTT
Gene:: PSRC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.109284122dup, NC_000001.10:g.109826744dup

Select item 14873485659.

rs1487348565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109279291 (GRCh38)
1:109821913 (GRCh37)
Canonical SPDI:: NC_000001.11:109279290:T:C
Gene:: PSRC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000001.11:g.109279291T>C, NC_000001.10:g.109821913T>C

Select item 148522948110.

rs1485229481 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACTCA>- [Show Flanks]
Chromosome:: 1:109281446 (GRCh38)
1:109824068 (GRCh37)
Canonical SPDI:: NC_000001.11:109281444:ATACTCA:A
Gene:: PSRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.109281446_109281451del, NC_000001.10:g.109824068_109824073del

Select item 148486177511.

rs1484861775 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:109281125 (GRCh38)
1:109823748 (GRCh37)
Canonical SPDI:: NC_000001.11:109281125:GG:GGG
Gene:: PSRC1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.00004/1 (TOMMO)
G=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.109281127dup, NC_000001.10:g.109823749dup, NM_001005290.4:c.645dup, NM_001005290.3:c.645dup, XM_017002560.3:c.645dup, XM_017002560.2:c.645dup, XM_017002560.1:c.645dup, NM_001350237.2:c.645dup, NM_001350237.1:c.645dup, XM_017002563.2:c.645dup, XM_017002563.1:c.645dup, XM_017002562.2:c.645dup, XM_017002562.1:c.645dup, XM_017002566.2:c.645dup, XM_017002566.1:c.645dup, XM_017002567.2:c.645dup, XM_017002567.1:c.645dup, XM_017002564.2:c.645dup, XM_017002564.1:c.645dup, NM_001363309.2:c.645dup, NM_001363309.1:c.645dup, NM_001350241.2:c.645dup, NM_001350241.1:c.645dup, NM_001350238.2:c.645dup, NM_001350238.1:c.645dup, NM_001350239.2:c.645dup, NM_001350239.1:c.645dup, NM_001350240.2:c.645dup, NM_001350240.1:c.645dup, NM_001350242.2:c.645dup, NM_001350242.1:c.645dup, XM_047432251.1:c.645dup, NM_001032290.1:c.645dup, NM_001394005.1:c.645dup, XM_047432274.1:c.645dup, NM_001394004.1:c.645dup, XM_047432275.1:c.645dup, XM_047432294.1:c.645dup, NM_001394003.1:c.645dup, XM_047432277.1:c.645dup, XM_047432284.1:c.645dup, NP_001005290.1:p.Arg216fs, XP_016858049.1:p.Arg216fs, NP_001337166.1:p.Arg216fs, XP_016858052.1:p.Arg216fs, XP_016858051.1:p.Arg216fs, XP_016858055.1:p.Arg216fs, XP_016858056.1:p.Arg216fs, XP_016858053.1:p.Arg216fs, NP_001350238.1:p.Arg216fs, NP_001337170.1:p.Arg216fs, NP_001337167.1:p.Arg216fs, NP_001337168.1:p.Arg216fs, NP_001337169.1:p.Arg216fs, NP_001337171.1:p.Arg216fs, XP_047288207.1:p.Arg216fs, NP_001380934.1:p.Arg216fs, XP_047288230.1:p.Arg216fs, NP_001380933.1:p.Arg216fs, XP_047288231.1:p.Arg216fs, XP_047288250.1:p.Arg216fs, NP_001380932.1:p.Arg216fs, XP_047288233.1:p.Arg216fs, XP_047288240.1:p.Arg216fs

Select item 148461977912.

rs1484619779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:109283683 (GRCh38)
1:109826305 (GRCh37)
Canonical SPDI:: NC_000001.11:109283682:C:G
Gene:: PSRC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109283683C>G, NC_000001.10:g.109826305C>G

Select item 148428699413.

rs1484286994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109283530 (GRCh38)
1:109826152 (GRCh37)
Canonical SPDI:: NC_000001.11:109283529:A:G
Gene:: PSRC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.109283530A>G, NC_000001.10:g.109826152A>G

Select item 148347004114.

rs1483470041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109283446 (GRCh38)
1:109826068 (GRCh37)
Canonical SPDI:: NC_000001.11:109283445:C:T
Gene:: PSRC1 (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)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109283446C>T, NC_000001.10:g.109826068C>T

Select item 148266094315.

rs1482660943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109283203 (GRCh38)
1:109825825 (GRCh37)
Canonical SPDI:: NC_000001.11:109283202:A:T
Gene:: PSRC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.109283203A>T, NC_000001.10:g.109825825A>T

Select item 148248307016.

rs1482483070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109281276 (GRCh38)
1:109823898 (GRCh37)
Canonical SPDI:: NC_000001.11:109281275:A:C
Gene:: PSRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109281276A>C, NC_000001.10:g.109823898A>C

Select item 148209625817.

rs1482096258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109279546 (GRCh38)
1:109822168 (GRCh37)
Canonical SPDI:: NC_000001.11:109279545:C:T
Gene:: PSRC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109279546C>T, NC_000001.10:g.109822168C>T

Select item 148167540318.

rs1481675403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109281202 (GRCh38)
1:109823824 (GRCh37)
Canonical SPDI:: NC_000001.11:109281201:G:A
Gene:: PSRC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.109281202G>A, NC_000001.10:g.109823824G>A, NM_032636.8:c.569C>T, NM_032636.7:c.569C>T, XM_005271283.4:c.569C>T, XM_005271283.3:c.569C>T, XM_005271283.2:c.569C>T, XM_005271283.1:c.569C>T, NM_001005290.4:c.569C>T, NM_001005290.3:c.569C>T, XM_017002560.3:c.569C>T, XM_017002560.2:c.569C>T, XM_017002560.1:c.569C>T, NM_001032291.3:c.569C>T, NM_001032291.2:c.569C>T, NM_001350237.2:c.569C>T, NM_001350237.1:c.569C>T, XM_017002563.2:c.569C>T, XM_017002563.1:c.569C>T, XM_017002562.2:c.569C>T, XM_017002562.1:c.569C>T, XM_017002566.2:c.569C>T, XM_017002566.1:c.569C>T, XM_017002567.2:c.569C>T, XM_017002567.1:c.569C>T, XM_017002564.2:c.569C>T, XM_017002564.1:c.569C>T, NM_001363309.2:c.569C>T, NM_001363309.1:c.569C>T, XM_017002569.2:c.569C>T, XM_017002569.1:c.569C>T, XM_017002570.2:c.569C>T, XM_017002570.1:c.569C>T, NM_001350241.2:c.569C>T, NM_001350241.1:c.569C>T, NM_001350238.2:c.569C>T, NM_001350238.1:c.569C>T, NM_001350239.2:c.569C>T, NM_001350239.1:c.569C>T, NM_001350240.2:c.569C>T, NM_001350240.1:c.569C>T, NM_001350242.2:c.569C>T, NM_001350242.1:c.569C>T, XM_047432251.1:c.569C>T, NM_001032290.1:c.569C>T, XM_047432264.1:c.569C>T, NM_001394005.1:c.569C>T, XM_047432255.1:c.569C>T, XM_047432272.1:c.569C>T, XM_047432274.1:c.569C>T, NM_001394002.1:c.569C>T, NM_001394004.1:c.569C>T, XM_047432275.1:c.569C>T, XM_047432294.1:c.569C>T, NM_001394003.1:c.569C>T, XM_047432277.1:c.569C>T, XM_047432284.1:c.569C>T, NP_116025.1:p.Ser190Phe, XP_005271340.1:p.Ser190Phe, NP_001005290.1:p.Ser190Phe, XP_016858049.1:p.Ser190Phe, NP_001027462.1:p.Ser190Phe, NP_001337166.1:p.Ser190Phe, XP_016858052.1:p.Ser190Phe, XP_016858051.1:p.Ser190Phe, XP_016858055.1:p.Ser190Phe, XP_016858056.1:p.Ser190Phe, XP_016858053.1:p.Ser190Phe, NP_001350238.1:p.Ser190Phe, XP_016858058.1:p.Ser190Phe, XP_016858059.1:p.Ser190Phe, NP_001337170.1:p.Ser190Phe, NP_001337167.1:p.Ser190Phe, NP_001337168.1:p.Ser190Phe, NP_001337169.1:p.Ser190Phe, NP_001337171.1:p.Ser190Phe, XP_047288207.1:p.Ser190Phe, XP_047288220.1:p.Ser190Phe, NP_001380934.1:p.Ser190Phe, XP_047288211.1:p.Ser190Phe, XP_047288228.1:p.Ser190Phe, XP_047288230.1:p.Ser190Phe, NP_001380931.1:p.Ser190Phe, NP_001380933.1:p.Ser190Phe, XP_047288231.1:p.Ser190Phe, XP_047288250.1:p.Ser190Phe, NP_001380932.1:p.Ser190Phe, XP_047288233.1:p.Ser190Phe, XP_047288240.1:p.Ser190Phe

Select item 148164146519.

rs1481641465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109280894 (GRCh38)
1:109823516 (GRCh37)
Canonical SPDI:: NC_000001.11:109280893:T:C
Gene:: PSRC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109280894T>C, NC_000001.10:g.109823516T>C, NM_032636.8:c.787A>G, NM_032636.7:c.787A>G, XM_005271283.4:c.787A>G, XM_005271283.3:c.787A>G, XM_005271283.2:c.787A>G, XM_005271283.1:c.787A>G, NM_001005290.4:c.686A>G, NM_001005290.3:c.686A>G, XM_017002560.3:c.877A>G, XM_017002560.2:c.877A>G, XM_017002560.1:c.877A>G, NM_001032291.3:c.787A>G, NM_001032291.2:c.787A>G, NM_001350237.2:c.739A>G, NM_001350237.1:c.739A>G, XM_017002563.2:c.877A>G, XM_017002563.1:c.877A>G, XM_017002562.2:c.877A>G, XM_017002562.1:c.877A>G, XM_017002566.2:c.877A>G, XM_017002566.1:c.877A>G, XM_017002567.2:c.877A>G, XM_017002567.1:c.877A>G, XM_017002564.2:c.877A>G, XM_017002564.1:c.877A>G, NM_001363309.2:c.877A>G, NM_001363309.1:c.877A>G, XM_017002569.2:c.787A>G, XM_017002569.1:c.787A>G, XM_017002570.2:c.787A>G, XM_017002570.1:c.787A>G, NM_001350241.2:c.739A>G, NM_001350241.1:c.739A>G, NM_001350238.2:c.739A>G, NM_001350238.1:c.739A>G, NM_001350239.2:c.739A>G, NM_001350239.1:c.739A>G, NM_001350240.2:c.739A>G, NM_001350240.1:c.739A>G, NM_001350242.2:c.739A>G, NM_001350242.1:c.739A>G, XM_047432251.1:c.877A>G, NM_001032290.1:c.877A>G, XM_047432264.1:c.787A>G, NM_001394005.1:c.877A>G, XM_047432255.1:c.787A>G, XM_047432272.1:c.787A>G, XM_047432274.1:c.739A>G, NM_001394002.1:c.787A>G, NM_001394004.1:c.686A>G, XM_047432275.1:c.739A>G, XM_047432294.1:c.686A>G, NM_001394003.1:c.686A>G, XM_047432277.1:c.686A>G, XM_047432284.1:c.686A>G, NP_116025.1:p.Thr263Ala, XP_005271340.1:p.Thr263Ala, NP_001005290.1:p.His229Arg, XP_016858049.1:p.Thr293Ala, NP_001027462.1:p.Thr263Ala, NP_001337166.1:p.Thr247Ala, XP_016858052.1:p.Thr293Ala, XP_016858051.1:p.Thr293Ala, XP_016858055.1:p.Thr293Ala, XP_016858056.1:p.Thr293Ala, XP_016858053.1:p.Thr293Ala, NP_001350238.1:p.Thr293Ala, XP_016858058.1:p.Thr263Ala, XP_016858059.1:p.Thr263Ala, NP_001337170.1:p.Thr247Ala, NP_001337167.1:p.Thr247Ala, NP_001337168.1:p.Thr247Ala, NP_001337169.1:p.Thr247Ala, NP_001337171.1:p.Thr247Ala, XP_047288207.1:p.Thr293Ala, XP_047288220.1:p.Thr263Ala, NP_001380934.1:p.Thr293Ala, XP_047288211.1:p.Thr263Ala, XP_047288228.1:p.Thr263Ala, XP_047288230.1:p.Thr247Ala, NP_001380931.1:p.Thr263Ala, NP_001380933.1:p.His229Arg, XP_047288231.1:p.Thr247Ala, XP_047288250.1:p.His229Arg, NP_001380932.1:p.His229Arg, XP_047288233.1:p.His229Arg, XP_047288240.1:p.His229Arg

Select item 148162451620.

rs1481624516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109280383 (GRCh38)
1:109823005 (GRCh37)
Canonical SPDI:: NC_000001.11:109280382:G:A
Gene:: PSRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109280383G>A, NC_000001.10:g.109823005G>A

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