SNP Links for Gene (Select 79057) - SNP

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Select item 14909016171.

rs1490901617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151700575 (GRCh38)
X:150869047 (GRCh37)
Canonical SPDI:: NC_000023.11:151700574:A:G
Gene:: PRRG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.151700575A>G, NC_000023.10:g.150869047A>G, NG_016589.1:g.10318A>G, NM_024082.3:c.238A>G, NM_024082.4:c.238A>G, NM_001372165.1:c.130A>G, NM_001372163.1:c.238A>G, NR_033262.1:n.628A>G, NR_033262.2:n.628A>G, NP_076987.3:p.Met80Val, NP_001359094.1:p.Met44Val, NP_001359092.1:p.Met80Val

Select item 14904110132.

rs1490411013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: X:151700884 (GRCh38)
X:150869356 (GRCh37)
Canonical SPDI:: NC_000023.11:151700874:CTCTCTCTCTC:CTCTCTCTC,NC_000023.11:151700874:CTCTCTCTCTC:CTCTCTCTCTCTC
Gene:: PRRG3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTC=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151700876TC[4], NC_000023.11:g.151700876TC[6], NC_000023.10:g.150869348TC[4], NC_000023.10:g.150869348TC[6], NG_016589.1:g.10619TC[4], NG_016589.1:g.10619TC[6], NM_024082.3:c.547_548del, NM_024082.3:c.547_548dup, NM_024082.4:c.547_548del, NM_024082.4:c.547_548dup, NM_001372165.1:c.439_440del, NM_001372165.1:c.439_440dup, NM_001372163.1:c.547_548del, NM_001372163.1:c.547_548dup, NR_033262.1:n.929TC[4], NR_033262.1:n.929TC[6], NR_033262.2:n.929TC[4], NR_033262.2:n.929TC[6], NP_076987.3:p.Ser183fs, NP_076987.3:p.Arg184fs, NP_001359094.1:p.Ser147fs, NP_001359094.1:p.Arg148fs, NP_001359092.1:p.Ser183fs, NP_001359092.1:p.Arg184fs

Select item 14903188753.

rs1490318875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:151700573 (GRCh38)
X:150869045 (GRCh37)
Canonical SPDI:: NC_000023.11:151700572:C:A,NC_000023.11:151700572:C:T
Gene:: PRRG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.151700573C>A, NC_000023.11:g.151700573C>T, NC_000023.10:g.150869045C>A, NC_000023.10:g.150869045C>T, NG_016589.1:g.10316C>A, NG_016589.1:g.10316C>T, NM_024082.3:c.236C>A, NM_024082.3:c.236C>T, NM_024082.4:c.236C>A, NM_024082.4:c.236C>T, NM_001372165.1:c.128C>A, NM_001372165.1:c.128C>T, NM_001372163.1:c.236C>A, NM_001372163.1:c.236C>T, NR_033262.1:n.626C>A, NR_033262.1:n.626C>T, NR_033262.2:n.626C>A, NR_033262.2:n.626C>T, NP_076987.3:p.Ala79Asp, NP_076987.3:p.Ala79Val, NP_001359094.1:p.Ala43Asp, NP_001359094.1:p.Ala43Val, NP_001359092.1:p.Ala79Asp, NP_001359092.1:p.Ala79Val

Select item 14901023034.

rs1490102303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:151692786 (GRCh38)
X:150861258 (GRCh37)
Canonical SPDI:: NC_000023.11:151692785:G:A,NC_000023.11:151692785:G:T
Gene:: PRRG3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.151692786G>A, NC_000023.11:g.151692786G>T, NC_000023.10:g.150861258G>A, NC_000023.10:g.150861258G>T, NG_016589.1:g.2529G>A, NG_016589.1:g.2529G>T

Select item 14899381175.

rs1489938117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151693407 (GRCh38)
X:150861879 (GRCh37)
Canonical SPDI:: NC_000023.11:151693406:C:T
Gene:: PRRG3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.151693407C>T, NC_000023.10:g.150861879C>T, NG_016589.1:g.3150C>T

Select item 14892774136.

rs1489277413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:151697237 (GRCh38)
X:150865709 (GRCh37)
Canonical SPDI:: NC_000023.11:151697236:T:C,NC_000023.11:151697236:T:G
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151697237T>C, NC_000023.11:g.151697237T>G, NC_000023.10:g.150865709T>C, NC_000023.10:g.150865709T>G, NG_016589.1:g.6980T>C, NG_016589.1:g.6980T>G

Select item 14882670697.

rs1488267069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151698175 (GRCh38)
X:150866647 (GRCh37)
Canonical SPDI:: NC_000023.11:151698174:C:T
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151698175C>T, NC_000023.10:g.150866647C>T, NG_016589.1:g.7918C>T

Select item 14878955458.

rs1487895545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTAGATGTGTACCTAC>- [Show Flanks]
Chromosome:: X:151699007 (GRCh38)
X:150867479 (GRCh37)
Canonical SPDI:: NC_000023.11:151699004:ACTTGTAGATGTGTACCTAC:AC
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151699007_151699024del, NC_000023.10:g.150867479_150867496del, NG_016589.1:g.8750_8767del

Select item 14877113109.

rs1487711310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:151697744 (GRCh38)
X:150866216 (GRCh37)
Canonical SPDI:: NC_000023.11:151697743:G:T
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.151697744G>T, NC_000023.10:g.150866216G>T, NG_016589.1:g.7487G>T

Select item 148756797810.

rs1487567978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151699567 (GRCh38)
X:150868039 (GRCh37)
Canonical SPDI:: NC_000023.11:151699566:A:G
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151699567A>G, NC_000023.10:g.150868039A>G, NG_016589.1:g.9310A>G

Select item 148738149111.

rs1487381491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:151698359 (GRCh38)
X:150866831 (GRCh37)
Canonical SPDI:: NC_000023.11:151698358:C:G
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151698359C>G, NC_000023.10:g.150866831C>G, NG_016589.1:g.8102C>G, NR_033262.1:n.53C>G, NR_033262.2:n.53C>G

Select item 148644659912.

rs1486446599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:151694917 (GRCh38)
X:150863389 (GRCh37)
Canonical SPDI:: NC_000023.11:151694916:C:A
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.151694917C>A, NC_000023.10:g.150863389C>A, NG_016589.1:g.4660C>A

Select item 148615043013.

rs1486150430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:151698969 (GRCh38)
X:150867441 (GRCh37)
Canonical SPDI:: NC_000023.11:151698968:C:T
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000135/2 (TOMMO)
HGVS:: NC_000023.11:g.151698969C>T, NC_000023.10:g.150867441C>T, NG_016589.1:g.8712C>T

Select item 148611173314.

rs1486111733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:151695268 (GRCh38)
X:150863740 (GRCh37)
Canonical SPDI:: NC_000023.11:151695267:G:A
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.151695268G>A, NC_000023.10:g.150863740G>A, NG_016589.1:g.5011G>A, NM_024082.3:c.-39G>A, NM_024082.4:c.-39G>A

Select item 148600060215.

rs1486000602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:151696558 (GRCh38)
X:150865030 (GRCh37)
Canonical SPDI:: NC_000023.11:151696557:T:G
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.151696558T>G, NC_000023.10:g.150865030T>G, NG_016589.1:g.6301T>G

Select item 148549686016.

rs1485496860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:151696698 (GRCh38)
X:150865170 (GRCh37)
Canonical SPDI:: NC_000023.11:151696697:G:T
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00013/2 (ALFA)
HGVS:: NC_000023.11:g.151696698G>T, NC_000023.10:g.150865170G>T, NG_016589.1:g.6441G>T

Select item 148503384317.

rs1485033843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:151696244 (GRCh38)
X:150864716 (GRCh37)
Canonical SPDI:: NC_000023.11:151696243:A:G
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151696244A>G, NC_000023.10:g.150864716A>G, NG_016589.1:g.5987A>G

Select item 148456908118.

rs1484569081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:151695264 (GRCh38)
X:150863736 (GRCh37)
Canonical SPDI:: NC_000023.11:151695263:G:A,NC_000023.11:151695263:G:C
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000135/14 (GnomAD)
HGVS:: NC_000023.11:g.151695264G>A, NC_000023.11:g.151695264G>C, NC_000023.10:g.150863736G>A, NC_000023.10:g.150863736G>C, NG_016589.1:g.5007G>A, NG_016589.1:g.5007G>C, NM_024082.3:c.-43G>A, NM_024082.3:c.-43G>C, NM_024082.4:c.-43G>A, NM_024082.4:c.-43G>C

Select item 148451605419.

rs1484516054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:151697454 (GRCh38)
X:150865926 (GRCh37)
Canonical SPDI:: NC_000023.11:151697453:G:A
Gene:: PRRG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151697454G>A, NC_000023.10:g.150865926G>A, NG_016589.1:g.7197G>A

Select item 148421742820.

rs1484217428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:151692629 (GRCh38)
X:150861101 (GRCh37)
Canonical SPDI:: NC_000023.11:151692628:G:A,NC_000023.11:151692628:G:C
Gene:: PRRG3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.151692629G>A, NC_000023.11:g.151692629G>C, NC_000023.10:g.150861101G>A, NC_000023.10:g.150861101G>C, NG_016589.1:g.2372G>A, NG_016589.1:g.2372G>C