Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs121912855

Hard Link
rs121912855 is a snp on gene COL7A1 (collagen, type VII, alpha 1)

GeneCOL7A1 Chromosome number 3 Chromosome position 48575218
Alleles G/A (transliterated to +) Minor Allele Minor Allele Frequency
Notation Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs769217 (CAT) | rs1599971 (PTPN22) | rs12730735 (PTPN22) | rs2187668 (HLA-DQA1) | rs119461976 (SECISBP2) | rs119461977 (SECISBP2) | rs730880269 (SECISBP2) | rs356219 (LOC105377329) | rs8176719 (ABO) | rs77375493 (JAK2) | rs16942 (BRCA1)

MOST FREQUENTLY SEARCHED:
rs1801133 (MTHFR) | rs9939609 (FTO) | rs1799941 (SHBG) | rs1801181 (CBS) | rs6025 (F5) | rs4680 (COMT) | rs2235544 (DIO1) | rs20541 (IL13) | rs2569191 (CD14) | rs2075252 (LRP2) | rs2844682 ()








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