rs1036939 - SNP

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Select item 10369391.

rs1036939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:78944982 (GRCh38)
15:79237324 (GRCh37)
Canonical SPDI:: NC_000015.10:78944981:C:A
Gene:: CTSH (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.372263/10372 (ALFA)
A=0.087165/254 (KOREAN)
A=0.091388/52 (Vietnamese)
A=0.113242/1898 (TOMMO)
C=0.275/11 (GENOME_DK)
C=0.27933/100 (SGDP_PRJ)
C=0.294118/10 (Siberian)
C=0.300162/1113 (TWINSUK)
C=0.307732/1186 (ALSPAC)
C=0.322098/1443 (Estonian)
C=0.33/198 (NorthernSweden)
C=0.369495/5487 (ExAC)
A=0.396939/1988 (1000Genomes)
C=0.403803/4290 (GoESP)
C=0.412037/89 (Qatari)
C=0.425154/58661 (GnomAD_exomes)
C=0.467674/65451 (GnomAD)
C=0.49218/130275 (TOPMED)
HGVS:: NC_000015.10:g.78944982C>A, NC_000015.9:g.79237324C>A, NG_009614.1:g.5097G>T, NM_004390.5:c.-1G>T, NM_004390.4:c.-1G>T, NM_004390.3:c.-1G>T, NM_001319137.2:c.-1076G>T, NM_001319137.1:c.-1076G>T, XM_005254181.3:c.-228G>T, XM_017021951.2:c.-193G>T, XM_017021951.1:c.-193G>T, NM_148979.2:c.-1G>T, NM_001411095.1:c.-228G>T, NM_148979.1:c.-1G>T

Select item 577267652.

rs57726765 has merged into rs1036939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:78944982 (GRCh38)
15:79237324 (GRCh37)
Canonical SPDI:: NC_000015.10:78944981:C:A
Gene:: CTSH (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.372263/10372 (ALFA)
A=0.087165/254 (KOREAN)
A=0.091388/52 (Vietnamese)
A=0.113242/1898 (TOMMO)
C=0.275/11 (GENOME_DK)
C=0.27933/100 (SGDP_PRJ)
C=0.294118/10 (Siberian)
C=0.300162/1113 (TWINSUK)
C=0.307732/1186 (ALSPAC)
C=0.322098/1443 (Estonian)
C=0.33/198 (NorthernSweden)
C=0.369495/5487 (ExAC)
A=0.396939/1988 (1000Genomes)
C=0.403803/4290 (GoESP)
C=0.412037/89 (Qatari)
C=0.425154/58661 (GnomAD_exomes)
C=0.467674/65451 (GnomAD)
C=0.49218/130275 (TOPMED)
HGVS:: NC_000015.10:g.78944982C>A, NC_000015.9:g.79237324C>A, NG_009614.1:g.5097G>T, NM_004390.5:c.-1G>T, NM_004390.4:c.-1G>T, NM_004390.3:c.-1G>T, NM_001319137.2:c.-1076G>T, NM_001319137.1:c.-1076G>T, XM_005254181.3:c.-228G>T, XM_017021951.2:c.-193G>T, XM_017021951.1:c.-193G>T, NM_148979.2:c.-1G>T, NM_001411095.1:c.-228G>T, NM_148979.1:c.-1G>T