rs1042704 - SNP

Select item 10427041.

rs1042704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:22843385 (GRCh38)
14:23312594 (GRCh37)
Canonical SPDI:: NC_000014.9:22843384:G:A,NC_000014.9:22843384:G:C
Gene:: MMP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.183072/55215 (ALFA)
A=0.014332/240 (TOMMO)
A=0.020253/16 (PRJEB37584)
A=0.020742/38 (Korea1K)
A=0.022801/14 (Vietnamese)
A=0.022867/67 (KOREAN)
A=0.076336/6007 (PAGE_STUDY)
A=0.087812/183 (HGDP_Stanford)
A=0.095297/154 (HapMap)
A=0.10837/543 (1000Genomes)
A=0.115741/25 (Qatari)
A=0.127727/33808 (TOPMED)
A=0.141414/19811 (GnomAD)
A=0.149469/1944 (GoESP)
A=0.163806/19831 (ExAC)
A=0.164085/41229 (GnomAD_exomes)
A=0.166667/100 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.180361/180 (GoNL)
A=0.198502/106 (MGP)
A=0.214941/797 (TWINSUK)
A=0.216741/971 (Estonian)
A=0.221069/852 (ALSPAC)
A=0.230263/70 (FINRISK)
A=0.304348/28 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.460317/58 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22843385G>A, NC_000014.9:g.22843385G>C, NC_000014.8:g.23312594G>A, NC_000014.8:g.23312594G>C, NG_046989.1:g.11853G>A, NG_046989.1:g.11853G>C, NM_004995.4:c.817G>A, NM_004995.4:c.817G>C, NM_004995.3:c.817G>A, NM_004995.3:c.817G>C, NP_004986.1:p.Asp273Asn, NP_004986.1:p.Asp273His

Select item 604375462.

rs60437546 has merged into rs1042704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:22843385 (GRCh38)
14:23312594 (GRCh37)
Canonical SPDI:: NC_000014.9:22843384:G:A,NC_000014.9:22843384:G:C
Gene:: MMP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.183072/55215 (ALFA)
A=0.014332/240 (TOMMO)
A=0.020253/16 (PRJEB37584)
A=0.020742/38 (Korea1K)
A=0.022801/14 (Vietnamese)
A=0.022867/67 (KOREAN)
A=0.076336/6007 (PAGE_STUDY)
A=0.087812/183 (HGDP_Stanford)
A=0.095297/154 (HapMap)
A=0.10837/543 (1000Genomes)
A=0.115741/25 (Qatari)
A=0.127727/33808 (TOPMED)
A=0.141414/19811 (GnomAD)
A=0.149469/1944 (GoESP)
A=0.163806/19831 (ExAC)
A=0.164085/41229 (GnomAD_exomes)
A=0.166667/100 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.180361/180 (GoNL)
A=0.198502/106 (MGP)
A=0.214941/797 (TWINSUK)
A=0.216741/971 (Estonian)
A=0.221069/852 (ALSPAC)
A=0.230263/70 (FINRISK)
A=0.304348/28 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.460317/58 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22843385G>A, NC_000014.9:g.22843385G>C, NC_000014.8:g.23312594G>A, NC_000014.8:g.23312594G>C, NG_046989.1:g.11853G>A, NG_046989.1:g.11853G>C, NM_004995.4:c.817G>A, NM_004995.4:c.817G>C, NM_004995.3:c.817G>A, NM_004995.3:c.817G>C, NP_004986.1:p.Asp273Asn, NP_004986.1:p.Asp273His

Select item 528200313.

rs52820031 has merged into rs1042704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:22843385 (GRCh38)
14:23312594 (GRCh37)
Canonical SPDI:: NC_000014.9:22843384:G:A,NC_000014.9:22843384:G:C
Gene:: MMP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.183072/55215 (ALFA)
A=0.014332/240 (TOMMO)
A=0.020253/16 (PRJEB37584)
A=0.020742/38 (Korea1K)
A=0.022801/14 (Vietnamese)
A=0.022867/67 (KOREAN)
A=0.076336/6007 (PAGE_STUDY)
A=0.087812/183 (HGDP_Stanford)
A=0.095297/154 (HapMap)
A=0.10837/543 (1000Genomes)
A=0.115741/25 (Qatari)
A=0.127727/33808 (TOPMED)
A=0.141414/19811 (GnomAD)
A=0.149469/1944 (GoESP)
A=0.163806/19831 (ExAC)
A=0.164085/41229 (GnomAD_exomes)
A=0.166667/100 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.180361/180 (GoNL)
A=0.198502/106 (MGP)
A=0.214941/797 (TWINSUK)
A=0.216741/971 (Estonian)
A=0.221069/852 (ALSPAC)
A=0.230263/70 (FINRISK)
A=0.304348/28 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.460317/58 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22843385G>A, NC_000014.9:g.22843385G>C, NC_000014.8:g.23312594G>A, NC_000014.8:g.23312594G>C, NG_046989.1:g.11853G>A, NG_046989.1:g.11853G>C, NM_004995.4:c.817G>A, NM_004995.4:c.817G>C, NM_004995.3:c.817G>A, NM_004995.3:c.817G>C, NP_004986.1:p.Asp273Asn, NP_004986.1:p.Asp273His

Select item 178816284.

rs17881628 has merged into rs1042704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:22843385 (GRCh38)
14:23312594 (GRCh37)
Canonical SPDI:: NC_000014.9:22843384:G:A,NC_000014.9:22843384:G:C
Gene:: MMP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.183072/55215 (ALFA)
A=0.014332/240 (TOMMO)
A=0.020253/16 (PRJEB37584)
A=0.020742/38 (Korea1K)
A=0.022801/14 (Vietnamese)
A=0.022867/67 (KOREAN)
A=0.076336/6007 (PAGE_STUDY)
A=0.087812/183 (HGDP_Stanford)
A=0.095297/154 (HapMap)
A=0.10837/543 (1000Genomes)
A=0.115741/25 (Qatari)
A=0.127727/33808 (TOPMED)
A=0.141414/19811 (GnomAD)
A=0.149469/1944 (GoESP)
A=0.163806/19831 (ExAC)
A=0.164085/41229 (GnomAD_exomes)
A=0.166667/100 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.180361/180 (GoNL)
A=0.198502/106 (MGP)
A=0.214941/797 (TWINSUK)
A=0.216741/971 (Estonian)
A=0.221069/852 (ALSPAC)
A=0.230263/70 (FINRISK)
A=0.304348/28 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.460317/58 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22843385G>A, NC_000014.9:g.22843385G>C, NC_000014.8:g.23312594G>A, NC_000014.8:g.23312594G>C, NG_046989.1:g.11853G>A, NG_046989.1:g.11853G>C, NM_004995.4:c.817G>A, NM_004995.4:c.817G>C, NM_004995.3:c.817G>A, NM_004995.3:c.817G>C, NP_004986.1:p.Asp273Asn, NP_004986.1:p.Asp273His

Select item 31821685.

rs3182168 has merged into rs1042704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:22843385 (GRCh38)
14:23312594 (GRCh37)
Canonical SPDI:: NC_000014.9:22843384:G:A,NC_000014.9:22843384:G:C
Gene:: MMP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.183072/55215 (ALFA)
A=0.014332/240 (TOMMO)
A=0.020253/16 (PRJEB37584)
A=0.020742/38 (Korea1K)
A=0.022801/14 (Vietnamese)
A=0.022867/67 (KOREAN)
A=0.076336/6007 (PAGE_STUDY)
A=0.087812/183 (HGDP_Stanford)
A=0.095297/154 (HapMap)
A=0.10837/543 (1000Genomes)
A=0.115741/25 (Qatari)
A=0.127727/33808 (TOPMED)
A=0.141414/19811 (GnomAD)
A=0.149469/1944 (GoESP)
A=0.163806/19831 (ExAC)
A=0.164085/41229 (GnomAD_exomes)
A=0.166667/100 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.180361/180 (GoNL)
A=0.198502/106 (MGP)
A=0.214941/797 (TWINSUK)
A=0.216741/971 (Estonian)
A=0.221069/852 (ALSPAC)
A=0.230263/70 (FINRISK)
A=0.304348/28 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.460317/58 (SGDP_PRJ)
HGVS:: NC_000014.9:g.22843385G>A, NC_000014.9:g.22843385G>C, NC_000014.8:g.23312594G>A, NC_000014.8:g.23312594G>C, NG_046989.1:g.11853G>A, NG_046989.1:g.11853G>C, NM_004995.4:c.817G>A, NM_004995.4:c.817G>C, NM_004995.3:c.817G>A, NM_004995.3:c.817G>C, NP_004986.1:p.Asp273Asn, NP_004986.1:p.Asp273His

dbSNP