SNP Links for Nucleotide (Select 156766063) - SNP

Links from Nucleotide

Items: 1 to 20 of 514

<< First< Prev

Page of 26

Next >Last >>

Select item 14892711271.

rs1489271127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152992045 (GRCh38)
X:152160589 (GRCh37)
Canonical SPDI:: NC_000023.11:152992044:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.152992045C>T, NW_003871103.3:g.426028C>T, NG_021341.2:g.7083G>A, NM_052926.3:c.-253G>A, NM_052926.2:c.-253G>A, NM_001103150.1:c.-267G>A, NW_025791818.1:g.607235C>T, NC_000023.10:g.152160589C>T

Select item 14880995722.

rs1488099572 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>- [Show Flanks]
Chromosome:: X:152990829 (GRCh38)
X:152159373 (GRCh37)
Canonical SPDI:: NC_000023.11:152990826:TCTCTC:TC
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.152990827TC[1], NW_003871103.3:g.424810TC[1], NG_021341.2:g.8296GA[1], NM_052926.3:c.769_772del, NM_052926.2:c.769_772del, NM_001184924.2:c.769_772del, NM_001184924.1:c.769_772del, NM_001103150.1:c.769_772del, NM_001103151.1:c.769_772del, NW_025791818.1:g.606017TC[1], NC_000023.10:g.152159371TC[1], XM_017029252.2:c.769_772del, XM_017029252.1:c.769_772del, XM_017029253.2:c.769_772del, XM_017029253.1:c.769_772del, NP_443158.1:p.Glu257fs, NP_001171853.1:p.Glu257fs, NP_001096620.1:p.Glu257fs, NP_001096621.1:p.Glu257fs, XP_016884741.1:p.Glu257fs, XP_016884742.1:p.Glu257fs

Select item 14870752873.

rs1487075287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152989321 (GRCh38)
X:152157865 (GRCh37)
Canonical SPDI:: NC_000023.11:152989320:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.00002/2 (GnomAD)
A=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.152989321G>A, NW_003871103.3:g.423304G>A, NG_021341.2:g.9807C>T, NM_052926.3:c.*931C>T, NM_052926.2:c.*931C>T, NM_001184924.2:c.*931C>T, NM_001184924.1:c.*931C>T, NM_001103150.1:c.*931C>T, NM_001103151.1:c.*931C>T, NW_025791818.1:g.604511G>A, NC_000023.10:g.152157865G>A, XM_017029252.2:c.*931C>T, XM_017029252.1:c.*931C>T, XM_017029253.2:c.*931C>T, XM_017029253.1:c.*931C>T

Select item 14866182474.

rs1486618247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152990623 (GRCh38)
X:152159167 (GRCh37)
Canonical SPDI:: NC_000023.11:152990622:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152990623G>A, NW_003871103.3:g.424606G>A, NG_021341.2:g.8505C>T, NM_052926.3:c.976C>T, NM_052926.2:c.976C>T, NM_001184924.2:c.976C>T, NM_001184924.1:c.976C>T, NM_001103150.1:c.976C>T, NM_001103151.1:c.976C>T, NW_025791818.1:g.605813G>A, NC_000023.10:g.152159167G>A, XM_017029252.2:c.976C>T, XM_017029252.1:c.976C>T, XM_017029253.2:c.976C>T, XM_017029253.1:c.976C>T, NP_443158.1:p.Arg326Ter, NP_001171853.1:p.Arg326Ter, NP_001096620.1:p.Arg326Ter, NP_001096621.1:p.Arg326Ter, XP_016884741.1:p.Arg326Ter, XP_016884742.1:p.Arg326Ter

Select item 14808973355.

rs1480897335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152989494 (GRCh38)
X:152158038 (GRCh37)
Canonical SPDI:: NC_000023.11:152989493:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.152989494C>T, NW_003871103.3:g.423477C>T, NG_021341.2:g.9634G>A, NM_052926.3:c.*758G>A, NM_052926.2:c.*758G>A, NM_001184924.2:c.*758G>A, NM_001184924.1:c.*758G>A, NM_001103150.1:c.*758G>A, NM_001103151.1:c.*758G>A, NW_025791818.1:g.604684C>T, NC_000023.10:g.152158038C>T, XM_017029252.2:c.*758G>A, XM_017029252.1:c.*758G>A, XM_017029253.2:c.*758G>A, XM_017029253.1:c.*758G>A

Select item 14808560756.

rs1480856075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:152990308 (GRCh38)
X:152158852 (GRCh37)
Canonical SPDI:: NC_000023.11:152990307:A:C
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.152990308A>C, NW_003871103.3:g.424291A>C, NG_021341.2:g.8820T>G, NM_052926.3:c.1291T>G, NM_052926.2:c.1291T>G, NM_001184924.2:c.1291T>G, NM_001184924.1:c.1291T>G, NM_001103150.1:c.1291T>G, NM_001103151.1:c.1291T>G, NW_025791818.1:g.605498A>C, NC_000023.10:g.152158852A>C, XM_017029252.2:c.1291T>G, XM_017029252.1:c.1291T>G, XM_017029253.2:c.1291T>G, XM_017029253.1:c.1291T>G, NP_443158.1:p.Leu431Val, NP_001171853.1:p.Leu431Val, NP_001096620.1:p.Leu431Val, NP_001096621.1:p.Leu431Val, XP_016884741.1:p.Leu431Val, XP_016884742.1:p.Leu431Val

Select item 14798806657.

rs1479880665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:152989554 (GRCh38)
X:152158098 (GRCh37)
Canonical SPDI:: NC_000023.11:152989553:C:A,NC_000023.11:152989553:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.152989554C>A, NC_000023.11:g.152989554C>T, NW_003871103.3:g.423537C>A, NW_003871103.3:g.423537C>T, NG_021341.2:g.9574G>T, NG_021341.2:g.9574G>A, NM_052926.3:c.*698G>T, NM_052926.3:c.*698G>A, NM_052926.2:c.*698G>T, NM_052926.2:c.*698G>A, NM_001184924.2:c.*698G>T, NM_001184924.2:c.*698G>A, NM_001184924.1:c.*698G>T, NM_001184924.1:c.*698G>A, NM_001103150.1:c.*698G>T, NM_001103150.1:c.*698G>A, NM_001103151.1:c.*698G>T, NM_001103151.1:c.*698G>A, NW_025791818.1:g.604744C>A, NW_025791818.1:g.604744C>T, NC_000023.10:g.152158098C>A, NC_000023.10:g.152158098C>T, XM_017029252.2:c.*698G>T, XM_017029252.2:c.*698G>A, XM_017029252.1:c.*698G>T, XM_017029252.1:c.*698G>A, XM_017029253.2:c.*698G>T, XM_017029253.2:c.*698G>A, XM_017029253.1:c.*698G>T, XM_017029253.1:c.*698G>A

Select item 14766650048.

rs1476665004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:152989447 (GRCh38)
X:152157991 (GRCh37)
Canonical SPDI:: NC_000023.11:152989446:G:C
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.152989447G>C, NW_003871103.3:g.423430G>C, NG_021341.2:g.9681C>G, NM_052926.3:c.*805C>G, NM_052926.2:c.*805C>G, NM_001184924.2:c.*805C>G, NM_001184924.1:c.*805C>G, NM_001103150.1:c.*805C>G, NM_001103151.1:c.*805C>G, NW_025791818.1:g.604637G>C, NC_000023.10:g.152157991G>C, XM_017029252.2:c.*805C>G, XM_017029252.1:c.*805C>G, XM_017029253.2:c.*805C>G, XM_017029253.1:c.*805C>G

Select item 14766136949.

rs1476613694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:152990946 (GRCh38)
X:152159490 (GRCh37)
Canonical SPDI:: NC_000023.11:152990945:T:C
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.152990946T>C, NW_003871103.3:g.424929T>C, NG_021341.2:g.8182A>G, NM_052926.3:c.653A>G, NM_052926.2:c.653A>G, NM_001184924.2:c.653A>G, NM_001184924.1:c.653A>G, NM_001103150.1:c.653A>G, NM_001103151.1:c.653A>G, NW_025791818.1:g.606136T>C, NC_000023.10:g.152159490T>C, XM_017029252.2:c.653A>G, XM_017029252.1:c.653A>G, XM_017029253.2:c.653A>G, XM_017029253.1:c.653A>G, NP_443158.1:p.Asn218Ser, NP_001171853.1:p.Asn218Ser, NP_001096620.1:p.Asn218Ser, NP_001096621.1:p.Asn218Ser, XP_016884741.1:p.Asn218Ser, XP_016884742.1:p.Asn218Ser

Select item 147185523910.

rs1471855239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152989959 (GRCh38)
X:152158503 (GRCh37)
Canonical SPDI:: NC_000023.11:152989958:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.152989959G>A, NW_003871103.3:g.423942G>A, NG_021341.2:g.9169C>T, NM_052926.3:c.*293C>T, NM_052926.2:c.*293C>T, NM_001184924.2:c.*293C>T, NM_001184924.1:c.*293C>T, NM_001103150.1:c.*293C>T, NM_001103151.1:c.*293C>T, NW_025791818.1:g.605149G>A, NC_000023.10:g.152158503G>A, XM_017029252.2:c.*293C>T, XM_017029252.1:c.*293C>T, XM_017029253.2:c.*293C>T, XM_017029253.1:c.*293C>T

Select item 147146992911.

rs1471469929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152990317 (GRCh38)
X:152158861 (GRCh37)
Canonical SPDI:: NC_000023.11:152990316:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152990317C>T, NW_003871103.3:g.424300C>T, NG_021341.2:g.8811G>A, NM_052926.3:c.1282G>A, NM_052926.2:c.1282G>A, NM_001184924.2:c.1282G>A, NM_001184924.1:c.1282G>A, NM_001103150.1:c.1282G>A, NM_001103151.1:c.1282G>A, NW_025791818.1:g.605507C>T, NC_000023.10:g.152158861C>T, XM_017029252.2:c.1282G>A, XM_017029252.1:c.1282G>A, XM_017029253.2:c.1282G>A, XM_017029253.1:c.1282G>A, NP_443158.1:p.Gly428Arg, NP_001171853.1:p.Gly428Arg, NP_001096620.1:p.Gly428Arg, NP_001096621.1:p.Gly428Arg, XP_016884741.1:p.Gly428Arg, XP_016884742.1:p.Gly428Arg

Select item 146909920112.

rs1469099201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:152988972 (GRCh38)
X:152157516 (GRCh37)
Canonical SPDI:: NC_000023.11:152988971:T:C
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.00093/11 (ALFA)
C=0.01547/45 (KOREAN)
HGVS:: NC_000023.11:g.152988972T>C, NW_003871103.3:g.422955T>C, NG_021341.2:g.10156A>G, NM_052926.3:c.*1280A>G, NM_052926.2:c.*1280A>G, NM_001184924.2:c.*1280A>G, NM_001184924.1:c.*1280A>G, NM_001103150.1:c.*1280A>G, NM_001103151.1:c.*1280A>G, NW_025791818.1:g.604162T>C, NC_000023.10:g.152157516T>C, XM_017029252.2:c.*1280A>G, XM_017029252.1:c.*1280A>G, XM_017029253.2:c.*1280A>G, XM_017029253.1:c.*1280A>G

Select item 146377919813.

rs1463779198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:152991117 (GRCh38)
X:152159661 (GRCh37)
Canonical SPDI:: NC_000023.11:152991116:A:C,NC_000023.11:152991116:A:G
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.152991117A>C, NC_000023.11:g.152991117A>G, NW_003871103.3:g.425100A>C, NW_003871103.3:g.425100A>G, NG_021341.2:g.8011T>G, NG_021341.2:g.8011T>C, NM_052926.3:c.482T>G, NM_052926.3:c.482T>C, NM_052926.2:c.482T>G, NM_052926.2:c.482T>C, NM_001184924.2:c.482T>G, NM_001184924.2:c.482T>C, NM_001184924.1:c.482T>G, NM_001184924.1:c.482T>C, NM_001103150.1:c.482T>G, NM_001103150.1:c.482T>C, NM_001103151.1:c.482T>G, NM_001103151.1:c.482T>C, NW_025791818.1:g.606307A>C, NW_025791818.1:g.606307A>G, NC_000023.10:g.152159661A>C, NC_000023.10:g.152159661A>G, XM_017029252.2:c.482T>G, XM_017029252.2:c.482T>C, XM_017029252.1:c.482T>G, XM_017029252.1:c.482T>C, XM_017029253.2:c.482T>G, XM_017029253.2:c.482T>C, XM_017029253.1:c.482T>G, XM_017029253.1:c.482T>C, NP_443158.1:p.Val161Gly, NP_443158.1:p.Val161Ala, NP_001171853.1:p.Val161Gly, NP_001171853.1:p.Val161Ala, NP_001096620.1:p.Val161Gly, NP_001096620.1:p.Val161Ala, NP_001096621.1:p.Val161Gly, NP_001096621.1:p.Val161Ala, XP_016884741.1:p.Val161Gly, XP_016884741.1:p.Val161Ala, XP_016884742.1:p.Val161Gly, XP_016884742.1:p.Val161Ala

Select item 146360347014.

rs1463603470 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCCTCCCCCTCTTCCTCCT>-,TCTCCTCCCCCTCTTCCTCCTTCTCCTCCCCCTCTTCCTCCT [Show Flanks]
Chromosome:: X:152989569 (GRCh38)
X:152158113 (GRCh37)
Canonical SPDI:: NC_000023.11:152989548:CTCCTCCCCCTCTTCCTCCTTCTCCTCCCCCTCTTCCTCCT:CTCCTCCCCCTCTTCCTCCT,NC_000023.11:152989548:CTCCTCCCCCTCTTCCTCCTTCTCCTCCCCCTCTTCCTCCT:CTCCTCCCCCTCTTCCTCCTTCTCCTCCCCCTCTTCCTCCTTCTCCTCCCCCTCTTCCTCCT
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTCCCCCTCTTCCTCCT=0.00007/1 (ALFA)
-=0.00035/35 (GnomAD)
HGVS:: NC_000023.11:g.152989569_152989589del, NC_000023.11:g.152989569_152989589dup, NW_003871103.3:g.423552_423572del, NW_003871103.3:g.423552_423572dup, NG_021341.2:g.9559_9579del, NG_021341.2:g.9559_9579dup, NM_052926.3:c.*683_*703del, NM_052926.3:c.*683_*703dup, NM_052926.2:c.*683_*703del, NM_052926.2:c.*683_*703dup, NM_001184924.2:c.*683_*703del, NM_001184924.2:c.*683_*703dup, NM_001184924.1:c.*683_*703del, NM_001184924.1:c.*683_*703dup, NM_001103150.1:c.*683_*703del, NM_001103150.1:c.*683_*703dup, NM_001103151.1:c.*683_*703del, NM_001103151.1:c.*683_*703dup, NW_025791818.1:g.604759_604779del, NW_025791818.1:g.604759_604779dup, NC_000023.10:g.152158113_152158133del, NC_000023.10:g.152158113_152158133dup, XM_017029252.2:c.*683_*703del, XM_017029252.2:c.*683_*703dup, XM_017029252.1:c.*683_*703del, XM_017029252.1:c.*683_*703dup, XM_017029253.2:c.*683_*703del, XM_017029253.2:c.*683_*703dup, XM_017029253.1:c.*683_*703del, XM_017029253.1:c.*683_*703dup

Select item 146286725915.

rs1462867259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:152991187 (GRCh38)
X:152159731 (GRCh37)
Canonical SPDI:: NC_000023.11:152991186:C:G,NC_000023.11:152991186:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.152991187C>G, NC_000023.11:g.152991187C>T, NW_003871103.3:g.425170C>G, NW_003871103.3:g.425170C>T, NG_021341.2:g.7941G>C, NG_021341.2:g.7941G>A, NM_052926.3:c.412G>C, NM_052926.3:c.412G>A, NM_052926.2:c.412G>C, NM_052926.2:c.412G>A, NM_001184924.2:c.412G>C, NM_001184924.2:c.412G>A, NM_001184924.1:c.412G>C, NM_001184924.1:c.412G>A, NM_001103150.1:c.412G>C, NM_001103150.1:c.412G>A, NM_001103151.1:c.412G>C, NM_001103151.1:c.412G>A, NW_025791818.1:g.606377C>G, NW_025791818.1:g.606377C>T, NC_000023.10:g.152159731C>G, NC_000023.10:g.152159731C>T, XM_017029252.2:c.412G>C, XM_017029252.2:c.412G>A, XM_017029252.1:c.412G>C, XM_017029252.1:c.412G>A, XM_017029253.2:c.412G>C, XM_017029253.2:c.412G>A, XM_017029253.1:c.412G>C, XM_017029253.1:c.412G>A, NP_443158.1:p.Val138Leu, NP_443158.1:p.Val138Ile, NP_001171853.1:p.Val138Leu, NP_001171853.1:p.Val138Ile, NP_001096620.1:p.Val138Leu, NP_001096620.1:p.Val138Ile, NP_001096621.1:p.Val138Leu, NP_001096621.1:p.Val138Ile, XP_016884741.1:p.Val138Leu, XP_016884741.1:p.Val138Ile, XP_016884742.1:p.Val138Leu, XP_016884742.1:p.Val138Ile

Select item 146271112116.

rs1462711121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:152989578 (GRCh38)
X:152158122 (GRCh37)
Canonical SPDI:: NC_000023.11:152989577:C:G
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.152989578C>G, NW_003871103.3:g.423561C>G, NG_021341.2:g.9550G>C, NM_052926.3:c.*674G>C, NM_052926.2:c.*674G>C, NM_001184924.2:c.*674G>C, NM_001184924.1:c.*674G>C, NM_001103150.1:c.*674G>C, NM_001103151.1:c.*674G>C, NW_025791818.1:g.604768C>G, NC_000023.10:g.152158122C>G, XM_017029252.2:c.*674G>C, XM_017029252.1:c.*674G>C, XM_017029253.2:c.*674G>C, XM_017029253.1:c.*674G>C

Select item 146138460317.

rs1461384603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:152989004 (GRCh38)
X:152157548 (GRCh37)
Canonical SPDI:: NC_000023.11:152989003:C:A
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.152989004C>A, NW_003871103.3:g.422987C>A, NG_021341.2:g.10124G>T, NM_052926.3:c.*1248G>T, NM_052926.2:c.*1248G>T, NM_001184924.2:c.*1248G>T, NM_001184924.1:c.*1248G>T, NM_001103150.1:c.*1248G>T, NM_001103151.1:c.*1248G>T, NW_025791818.1:g.604194C>A, NC_000023.10:g.152157548C>A, XM_017029252.2:c.*1248G>T, XM_017029252.1:c.*1248G>T, XM_017029253.2:c.*1248G>T, XM_017029253.1:c.*1248G>T

Select item 145709495918.

rs1457094959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152991924 (GRCh38)
X:152160468 (GRCh37)
Canonical SPDI:: NC_000023.11:152991923:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: 5_prime_UTR_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.152991924G>A, NW_003871103.3:g.425907G>A, NG_021341.2:g.7204C>T, NM_052926.3:c.-132C>T, NM_052926.2:c.-132C>T, NM_001184924.2:c.-146C>T, NM_001184924.1:c.-146C>T, NM_001103150.1:c.-146C>T, NM_001103151.1:c.-146C>T, NW_025791818.1:g.607114G>A, NC_000023.10:g.152160468G>A, XM_017029252.2:c.-132C>T, XM_017029252.1:c.-132C>T, XM_017029253.2:c.-132C>T, XM_017029253.1:c.-132C>T

Select item 145557823819.

rs1455578238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152989098 (GRCh38)
X:152157642 (GRCh37)
Canonical SPDI:: NC_000023.11:152989097:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152989098G>A, NW_003871103.3:g.423081G>A, NG_021341.2:g.10030C>T, NM_052926.3:c.*1154C>T, NM_052926.2:c.*1154C>T, NM_001184924.2:c.*1154C>T, NM_001184924.1:c.*1154C>T, NM_001103150.1:c.*1154C>T, NM_001103151.1:c.*1154C>T, NW_025791818.1:g.604288G>A, NC_000023.10:g.152157642G>A, XM_017029252.2:c.*1154C>T, XM_017029252.1:c.*1154C>T, XM_017029253.2:c.*1154C>T, XM_017029253.1:c.*1154C>T

Select item 145411472820.

rs1454114728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152989701 (GRCh38)
X:152158245 (GRCh37)
Canonical SPDI:: NC_000023.11:152989700:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152989701C>T, NW_003871103.3:g.423684C>T, NG_021341.2:g.9427G>A, NM_052926.3:c.*551G>A, NM_052926.2:c.*551G>A, NM_001184924.2:c.*551G>A, NM_001184924.1:c.*551G>A, NM_001103150.1:c.*551G>A, NM_001103151.1:c.*551G>A, NW_025791818.1:g.604891C>T, NC_000023.10:g.152158245C>T, XM_017029252.2:c.*551G>A, XM_017029252.1:c.*551G>A, XM_017029253.2:c.*551G>A, XM_017029253.1:c.*551G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 514

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity