Gene | SNV_1 ID | SNV_2 ID | SNV_3 ID | SNV_4 ID |
---|---|---|---|---|
MTHFR | 677C>T Rs 1801133: C>T | Rs 1801131: A>C | Rs 2274976: G>A | Â |
NM_005957.4: c.665C>T | NM_005957.4: c.1286A>C | NM_005957.4:c.1781G>A | ||
NP_005948.3 p.Ala222Val | NP_005948.3 p.Gln429Ala | NP_005948.3 p.Arg594Gln | ||
A = 0.24 | G = 0.24 | T = 0.075 | ||
MTRR | Rs 1801394: A>G | Rs 2287780: C>T | Rs 10380: C>T | Â |
NM_002454.2: c.66A>G | NM_002454.2: c.1243C>T | NM_024010.2: c.1864C>T | ||
NP_002445.2 p.Ile22Met | NP_002445.2 p.Arg415Cys | NP_076915.2 p.His622Tyr | ||
G = 0.36 GMAF, 0.47 ClinVar, 0.45 EXAC | T = 0.0679 | T = 0.219 | ||
MAT1A | Rs 114494303: G>A | Rs 72558181: G>A | Rs 112848063: A>G | Rs 116659053: G>A |
NM_00429.2: c.530G>A | NM_00429.2: c.791G>A | NM_00429.2: c.1061A>G | NM_00429.2: c.1066G>A | |
NP_00420.1 p.Arg177Gln | NP_00420.1 p.Arg264His | NP_00420.1 p.Asp354Gly | NP_00420.1 p.Arg356Trp | |
A = 0.0002 | A = 0.000009 |  | A = 0.0002 | |
MTR | Rs 1805087: A>G | Â | Â | Â |
NM_000254.2: c.2756A>G, | ||||
NP_000245.2 p.Asp919Gly | ||||
G = 0.218 | ||||
CBS | Rs 17849313: G>C | Rs 117687681: C>T | Rs 11700812: G>A/C | Â |
NM_001178009.1: c.205G>C | NM_001178009.1: c.1105C>T | NM_000071.2: c.1106G>A, G>C | ||
NP_000062.1 p.Ala69Pro | NP_000062.1 p.Arg369Cys | NP_001171479.1 p.Arg369His, | ||
 | A = 0.0012 | NP_001171479.1 p.Arg369Pro. | ||
 |  | T/G = 0.00003 |