SNP Links for Gene (Select 5538) - SNP

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Select item 14914690611.

rs1491469061 has merged into rs566610286 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 1:40090356 (GRCh38)
1:40556028 (GRCh37)
Canonical SPDI:: NC_000001.11:40090348:TGTGTGTGTGT:TGTGTGT,NC_000001.11:40090348:TGTGTGTGTGT:TGTGTGTGT,NC_000001.11:40090348:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.00164/3 (Korea1K)
TG=0.0034/57 (TOMMO)
HGVS:: NC_000001.11:g.40090350GT[3], NC_000001.11:g.40090350GT[4], NC_000001.11:g.40090350GT[6], NC_000001.10:g.40556022GT[3], NC_000001.10:g.40556022GT[4], NC_000001.10:g.40556022GT[6], NG_009192.1:g.12113CA[3], NG_009192.1:g.12113CA[4], NG_009192.1:g.12113CA[6]

Select item 14914337502.

rs1491433750 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:40090480 (GRCh38)
1:40556152 (GRCh37)
Canonical SPDI:: NC_000001.11:40090479:AT:
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000122/2 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000094/25 (TOPMED)
-=0.000107/15 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.40090480_40090481del, NC_000001.10:g.40556152_40556153del, NG_009192.1:g.11990_11991del

Select item 14912028573.

rs1491202857 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:40075477 (GRCh38)
1:40541149 (GRCh37)
Canonical SPDI:: NC_000001.11:40075476:CT:
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/5 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.40075477_40075478del, NC_000001.10:g.40541149_40541150del, NG_009192.1:g.26993_26994del

Select item 14911142964.

rs1491114296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTCCT [Show Flanks]
Chromosome:: 1:40074375 (GRCh38)
1:40540048 (GRCh37)
Canonical SPDI:: NC_000001.11:40074375:CTCTTTCTTCCT:CTCTTTCTTCCTCTTTCTTCCT
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTTTCTTCCTCTTTCTTCCT=0./0 (ALFA)
CTCTTTCTTC=0.000007/1 (GnomAD)
CTCTTTCTTC=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40074378_40074387dup, NC_000001.10:g.40540050_40540059dup, NG_009192.1:g.28086_28095dup

Select item 14910982785.

rs1491098278 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:40078152 (GRCh38)
1:40543824 (GRCh37)
Canonical SPDI:: NC_000001.11:40078151:GT:
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40078152_40078153del, NC_000001.10:g.40543824_40543825del, NG_009192.1:g.24318_24319del

Select item 14910941616.

rs1491094161 has merged into rs142249638 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 1:40074376 (GRCh38)
1:40540048 (GRCh37)
Canonical SPDI:: NC_000001.11:40074374:TCTCT:T,NC_000001.11:40074374:TCTCT:TCT
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00011/2 (ALFA)
-=0.00453/23 (1000Genomes)
-=0.04684/785 (TOMMO)
-=0.06659/122 (Korea1K)
HGVS:: NC_000001.11:g.40074376_40074379del, NC_000001.11:g.40074376CT[1], NC_000001.10:g.40540048_40540051del, NC_000001.10:g.40540048CT[1], NG_009192.1:g.28093_28096del, NG_009192.1:g.28093GA[1]

Select item 14910481317.

rs1491048131 has merged into rs11464192 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:40079403 (GRCh38)
1:40545075 (GRCh37)
Canonical SPDI:: NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:40079392:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTT=0.0032/16 (1000Genomes)
HGVS:: NC_000001.11:g.40079403_40079414del, NC_000001.11:g.40079404_40079414del, NC_000001.11:g.40079406_40079414del, NC_000001.11:g.40079407_40079414del, NC_000001.11:g.40079408_40079414del, NC_000001.11:g.40079409_40079414del, NC_000001.11:g.40079410_40079414del, NC_000001.11:g.40079411_40079414del, NC_000001.11:g.40079412_40079414del, NC_000001.11:g.40079413_40079414del, NC_000001.11:g.40079414del, NC_000001.11:g.40079414dup, NC_000001.11:g.40079413_40079414dup, NC_000001.11:g.40079412_40079414dup, NC_000001.11:g.40079411_40079414dup, NC_000001.11:g.40079410_40079414dup, NC_000001.11:g.40079409_40079414dup, NC_000001.11:g.40079408_40079414dup, NC_000001.11:g.40079407_40079414dup, NC_000001.11:g.40079406_40079414dup, NC_000001.11:g.40079405_40079414dup, NC_000001.11:g.40079404_40079414dup, NC_000001.11:g.40079403_40079414dup, NC_000001.11:g.40079402_40079414dup, NC_000001.11:g.40079401_40079414dup, NC_000001.11:g.40079399_40079414dup, NC_000001.11:g.40079414_40079415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40545075_40545086del, NC_000001.10:g.40545076_40545086del, NC_000001.10:g.40545078_40545086del, NC_000001.10:g.40545079_40545086del, NC_000001.10:g.40545080_40545086del, NC_000001.10:g.40545081_40545086del, NC_000001.10:g.40545082_40545086del, NC_000001.10:g.40545083_40545086del, NC_000001.10:g.40545084_40545086del, NC_000001.10:g.40545085_40545086del, NC_000001.10:g.40545086del, NC_000001.10:g.40545086dup, NC_000001.10:g.40545085_40545086dup, NC_000001.10:g.40545084_40545086dup, NC_000001.10:g.40545083_40545086dup, NC_000001.10:g.40545082_40545086dup, NC_000001.10:g.40545081_40545086dup, NC_000001.10:g.40545080_40545086dup, NC_000001.10:g.40545079_40545086dup, NC_000001.10:g.40545078_40545086dup, NC_000001.10:g.40545077_40545086dup, NC_000001.10:g.40545076_40545086dup, NC_000001.10:g.40545075_40545086dup, NC_000001.10:g.40545074_40545086dup, NC_000001.10:g.40545073_40545086dup, NC_000001.10:g.40545071_40545086dup, NC_000001.10:g.40545086_40545087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009192.1:g.23067_23078del, NG_009192.1:g.23068_23078del, NG_009192.1:g.23070_23078del, NG_009192.1:g.23071_23078del, NG_009192.1:g.23072_23078del, NG_009192.1:g.23073_23078del, NG_009192.1:g.23074_23078del, NG_009192.1:g.23075_23078del, NG_009192.1:g.23076_23078del, NG_009192.1:g.23077_23078del, NG_009192.1:g.23078del, NG_009192.1:g.23078dup, NG_009192.1:g.23077_23078dup, NG_009192.1:g.23076_23078dup, NG_009192.1:g.23075_23078dup, NG_009192.1:g.23074_23078dup, NG_009192.1:g.23073_23078dup, NG_009192.1:g.23072_23078dup, NG_009192.1:g.23071_23078dup, NG_009192.1:g.23070_23078dup, NG_009192.1:g.23069_23078dup, NG_009192.1:g.23068_23078dup, NG_009192.1:g.23067_23078dup, NG_009192.1:g.23066_23078dup, NG_009192.1:g.23065_23078dup, NG_009192.1:g.23063_23078dup, NG_009192.1:g.23078_23079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910469358.

rs1491046935 has merged into rs146116793 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 1:40090448 (GRCh38)
1:40556120 (GRCh37)
Canonical SPDI:: NC_000001.11:40090440:TATATATAT:TATATAT,NC_000001.11:40090440:TATATATAT:TATATATATAT,NC_000001.11:40090440:TATATATAT:TATATATATATAT
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.2517/151 (NorthernSweden)
-=0.2946/294 (GoNL)
-=0.3117/571 (Korea1K)
-=0.378/1893 (1000Genomes)
HGVS:: NC_000001.11:g.40090442AT[3], NC_000001.11:g.40090442AT[5], NC_000001.11:g.40090442AT[6], NC_000001.10:g.40556114AT[3], NC_000001.10:g.40556114AT[5], NC_000001.10:g.40556114AT[6], NG_009192.1:g.12023TA[3], NG_009192.1:g.12023TA[5], NG_009192.1:g.12023TA[6]

Select item 14904840629.

rs1490484062 [Homo sapiens]

Variant type:: DEL
Alleles:: TAATA>- [Show Flanks]
Chromosome:: 1:40092849 (GRCh38)
1:40558521 (GRCh37)
Canonical SPDI:: NC_000001.11:40092848:TAATA:
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40092849_40092853del, NC_000001.10:g.40558521_40558525del, NG_009192.1:g.9618_9622del

Select item 149047041410.

rs1490470414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40078169 (GRCh38)
1:40543841 (GRCh37)
Canonical SPDI:: NC_000001.11:40078168:C:T
Gene:: PPT1 (Varview)
Functional Consequence:: intron_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_000001.11:g.40078169C>T, NC_000001.10:g.40543841C>T, NG_009192.1:g.24302G>A

Select item 149044550211.

rs1490445502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:40076947 (GRCh38)
1:40542619 (GRCh37)
Canonical SPDI:: NC_000001.11:40076946:T:C
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40076947T>C, NC_000001.10:g.40542619T>C, NG_009192.1:g.25524A>G

Select item 149029899312.

rs1490298993 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:40085016 (GRCh38)
1:40550689 (GRCh37)
Canonical SPDI:: NC_000001.11:40085016:GGGGG:GGGGGG
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000142/2 (ALFA)
G=0.000057/8 (GnomAD)
G=0.000087/23 (TOPMED)
G=0.001092/2 (Korea1K)
G=0.002123/36 (TOMMO)
HGVS:: NC_000001.11:g.40085021dup, NC_000001.10:g.40550693dup, NG_009192.1:g.17454dup, NG_075484.1:g.425dup

Select item 149028584113.

rs1490285841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40087320 (GRCh38)
1:40552992 (GRCh37)
Canonical SPDI:: NC_000001.11:40087319:G:A
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.40087320G>A, NC_000001.10:g.40552992G>A, NG_009192.1:g.15151C>T

Select item 149028089814.

rs1490280898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:40074151 (GRCh38)
1:40539823 (GRCh37)
Canonical SPDI:: NC_000001.11:40074150:T:G
Gene:: PPT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40074151T>G, NC_000001.10:g.40539823T>G, NG_009192.1:g.28320A>C, NM_000310.4:c.831A>C, NM_000310.3:c.831A>C, NM_001363695.2:c.759A>C, NM_001363695.1:c.759A>C, NM_001142604.2:c.522A>C, NM_001142604.1:c.522A>C

Select item 149023741815.

rs1490237418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40072461 (GRCh38)
1:40538133 (GRCh37)
Canonical SPDI:: NC_000001.11:40072460:A:G
Gene:: PPT1 (Varview), CAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.40072461A>G, NC_000001.10:g.40538133A>G, NG_009192.1:g.30010T>C, NM_001363695.2:c.*1600T>C, NM_001142604.2:c.*1600T>C, NM_006367.4:c.*928A>G, NM_006367.3:c.*928A>G, NM_001350477.3:c.*928A>G, NM_001350477.2:c.*928A>G, NM_001350477.1:c.*928A>G, NM_001350479.2:c.*928A>G, NM_001350479.1:c.*928A>G, NM_001350480.2:c.*928A>G, NM_001350480.1:c.*928A>G, XM_017000069.2:c.*928A>G, XM_017000069.1:c.*928A>G, NM_001350478.2:c.*928A>G, NM_001350478.1:c.*928A>G, NM_001350484.2:c.*928A>G, NM_001350484.1:c.*928A>G, NM_001350475.2:c.*928A>G, NM_001350475.1:c.*928A>G, NM_001350481.2:c.*928A>G, NM_001350481.1:c.*928A>G, XM_011540515.2:c.*928A>G, XM_011540515.1:c.*928A>G, XM_011540510.2:c.*928A>G, XM_011540510.1:c.*928A>G, NM_001350482.2:c.*928A>G, NM_001350482.1:c.*928A>G, NM_001330502.2:c.*928A>G, NM_001330502.1:c.*928A>G, NM_001350476.2:c.*928A>G, NM_001350476.1:c.*928A>G, NM_001350483.2:c.*928A>G, NM_001350483.1:c.*928A>G, NM_001105530.2:c.*928A>G, NM_001105530.1:c.*928A>G, NM_001350485.2:c.*928A>G, NM_001350485.1:c.*928A>G, XM_047431628.1:c.*928A>G, XM_047431636.1:c.*928A>G, XM_047431580.1:c.*928A>G, XM_047431489.1:c.*928A>G, XM_047431520.1:c.*928A>G, XM_047431420.1:c.*928A>G, XM_047431616.1:c.*928A>G, XM_047431603.1:c.*928A>G

Select item 148999312516.

rs1489993125 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 1:40093364 (GRCh38)
1:40559036 (GRCh37)
Canonical SPDI:: NC_000001.11:40093360:AAGAAG:AAG
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.40093361AAG[1], NC_000001.10:g.40559033AAG[1], NG_009192.1:g.9105CTT[1]

Select item 148963903817.

rs1489639038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:40094069 (GRCh38)
1:40559741 (GRCh37)
Canonical SPDI:: NC_000001.11:40094068:T:A,NC_000001.11:40094068:T:G
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40094069T>A, NC_000001.11:g.40094069T>G, NC_000001.10:g.40559741T>A, NC_000001.10:g.40559741T>G, NG_009192.1:g.8402A>T, NG_009192.1:g.8402A>C

Select item 148961457118.

rs1489614571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:40079432 (GRCh38)
1:40545104 (GRCh37)
Canonical SPDI:: NC_000001.11:40079431:T:A,NC_000001.11:40079431:T:C
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.40079432T>A, NC_000001.11:g.40079432T>C, NC_000001.10:g.40545104T>A, NC_000001.10:g.40545104T>C, NG_009192.1:g.23039A>T, NG_009192.1:g.23039A>G

Select item 148941600019.

rs1489416000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:40075959 (GRCh38)
1:40541631 (GRCh37)
Canonical SPDI:: NC_000001.11:40075958:A:C
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.40075959A>C, NC_000001.10:g.40541631A>C, NG_009192.1:g.26512T>G

Select item 148920471720.

rs1489204717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40084397 (GRCh38)
1:40550069 (GRCh37)
Canonical SPDI:: NC_000001.11:40084396:A:G
Gene:: PPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.40084397A>G, NC_000001.10:g.40550069A>G, NG_009192.1:g.18074T>C

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