SNP Links for Gene (Select 4148) - SNP

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Select item 14915817811.

rs1491581781 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:20010067 (GRCh38)
2:20209828 (GRCh37)
Canonical SPDI:: NC_000002.12:20010066:TA:
Gene:: MATN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00097/5 (GnomAD)
HGVS:: NC_000002.12:g.20010067_20010068del, NC_000002.11:g.20209828_20209829del, NG_008087.1:g.7627_7628del

Select item 14914763542.

rs1491476354 has merged into rs57140153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:20010072 (GRCh38)
2:20209833 (GRCh37)
Canonical SPDI:: NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:20010067:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MATN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.20010072_20010090del, NC_000002.12:g.20010076_20010090del, NC_000002.12:g.20010078_20010090del, NC_000002.12:g.20010081_20010090del, NC_000002.12:g.20010082_20010090del, NC_000002.12:g.20010083_20010090del, NC_000002.12:g.20010084_20010090del, NC_000002.12:g.20010085_20010090del, NC_000002.12:g.20010086_20010090del, NC_000002.12:g.20010087_20010090del, NC_000002.12:g.20010088_20010090del, NC_000002.12:g.20010089_20010090del, NC_000002.12:g.20010090del, NC_000002.12:g.20010090dup, NC_000002.12:g.20010089_20010090dup, NC_000002.12:g.20010088_20010090dup, NC_000002.12:g.20010087_20010090dup, NC_000002.12:g.20010086_20010090dup, NC_000002.12:g.20010085_20010090dup, NC_000002.12:g.20010084_20010090dup, NC_000002.12:g.20010083_20010090dup, NC_000002.12:g.20010082_20010090dup, NC_000002.12:g.20010081_20010090dup, NC_000002.12:g.20010080_20010090dup, NC_000002.12:g.20010079_20010090dup, NC_000002.12:g.20010078_20010090dup, NC_000002.12:g.20010077_20010090dup, NC_000002.12:g.20010076_20010090dup, NC_000002.12:g.20010075_20010090dup, NC_000002.12:g.20010074_20010090dup, NC_000002.12:g.20010073_20010090dup, NC_000002.12:g.20010072_20010090dup, NC_000002.12:g.20010071_20010090dup, NC_000002.12:g.20010070_20010090dup, NC_000002.12:g.20010069_20010090dup, NC_000002.12:g.20010068_20010090dup, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010090_20010091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.20010068_20010090A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.20010068_20010090A[34]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.20209833_20209851del, NC_000002.11:g.20209837_20209851del, NC_000002.11:g.20209839_20209851del, NC_000002.11:g.20209842_20209851del, NC_000002.11:g.20209843_20209851del, NC_000002.11:g.20209844_20209851del, NC_000002.11:g.20209845_20209851del, NC_000002.11:g.20209846_20209851del, NC_000002.11:g.20209847_20209851del, NC_000002.11:g.20209848_20209851del, NC_000002.11:g.20209849_20209851del, NC_000002.11:g.20209850_20209851del, NC_000002.11:g.20209851del, NC_000002.11:g.20209851dup, NC_000002.11:g.20209850_20209851dup, NC_000002.11:g.20209849_20209851dup, NC_000002.11:g.20209848_20209851dup, NC_000002.11:g.20209847_20209851dup, NC_000002.11:g.20209846_20209851dup, NC_000002.11:g.20209845_20209851dup, NC_000002.11:g.20209844_20209851dup, NC_000002.11:g.20209843_20209851dup, NC_000002.11:g.20209842_20209851dup, NC_000002.11:g.20209841_20209851dup, NC_000002.11:g.20209840_20209851dup, NC_000002.11:g.20209839_20209851dup, NC_000002.11:g.20209838_20209851dup, NC_000002.11:g.20209837_20209851dup, NC_000002.11:g.20209836_20209851dup, NC_000002.11:g.20209835_20209851dup, NC_000002.11:g.20209834_20209851dup, NC_000002.11:g.20209833_20209851dup, NC_000002.11:g.20209832_20209851dup, NC_000002.11:g.20209831_20209851dup, NC_000002.11:g.20209830_20209851dup, NC_000002.11:g.20209829_20209851dup, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209851_20209852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.20209829_20209851A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.20209829_20209851A[34]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008087.1:g.7609_7627del, NG_008087.1:g.7613_7627del, NG_008087.1:g.7615_7627del, NG_008087.1:g.7618_7627del, NG_008087.1:g.7619_7627del, NG_008087.1:g.7620_7627del, NG_008087.1:g.7621_7627del, NG_008087.1:g.7622_7627del, NG_008087.1:g.7623_7627del, NG_008087.1:g.7624_7627del, NG_008087.1:g.7625_7627del, NG_008087.1:g.7626_7627del, NG_008087.1:g.7627del, NG_008087.1:g.7627dup, NG_008087.1:g.7626_7627dup, NG_008087.1:g.7625_7627dup, NG_008087.1:g.7624_7627dup, NG_008087.1:g.7623_7627dup, NG_008087.1:g.7622_7627dup, NG_008087.1:g.7621_7627dup, NG_008087.1:g.7620_7627dup, NG_008087.1:g.7619_7627dup, NG_008087.1:g.7618_7627dup, NG_008087.1:g.7617_7627dup, NG_008087.1:g.7616_7627dup, NG_008087.1:g.7615_7627dup, NG_008087.1:g.7614_7627dup, NG_008087.1:g.7613_7627dup, NG_008087.1:g.7612_7627dup, NG_008087.1:g.7611_7627dup, NG_008087.1:g.7610_7627dup, NG_008087.1:g.7609_7627dup, NG_008087.1:g.7608_7627dup, NG_008087.1:g.7607_7627dup, NG_008087.1:g.7606_7627dup, NG_008087.1:g.7605_7627dup, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7627_7628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008087.1:g.7605_7627T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_008087.1:g.7605_7627T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14913624513.

rs1491362451 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAT,AAAAAT [Show Flanks]
Chromosome:: 2:19999650 (GRCh38)
2:20199412 (GRCh37)
Canonical SPDI:: NC_000002.12:19999650::AAAAAAT,NC_000002.12:19999650::AAAAAT
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAT=0./0 (ALFA)
AAAAAT=0.000008/1 (GnomAD)
AAAAAT=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.19999650_19999651insAAAAAAT, NC_000002.12:g.19999650_19999651insAAAAAT, NC_000002.11:g.20199411_20199412insAAAAAAT, NC_000002.11:g.20199411_20199412insAAAAAT, NG_008087.1:g.18044_18045insATTTTTT, NG_008087.1:g.18044_18045insATTTTT

Select item 14911751804.

rs1491175180 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:20002161 (GRCh38)
2:20201922 (GRCh37)
Canonical SPDI:: NC_000002.12:20002158:TATA:TA
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.00153/25 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00047/3 (1000Genomes)
-=0.0025/181 (GnomAD)
-=0.00467/18 (ALSPAC)
-=0.00512/19 (TWINSUK)
-=0.06513/65 (GoNL)
HGVS:: NC_000002.12:g.20002159TA[1], NC_000002.11:g.20201920TA[1], NG_008087.1:g.15533TA[1]

Select item 14911618235.

rs1491161823 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:19999652 (GRCh38)
2:20199413 (GRCh37)
Canonical SPDI:: NC_000002.12:19999649:AGAG:AG
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000002.12:g.19999650AG[1], NC_000002.11:g.20199411AG[1], NG_008087.1:g.18042CT[1]

Select item 14909283316.

rs1490928331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:19994283 (GRCh38)
2:20194044 (GRCh37)
Canonical SPDI:: NC_000002.12:19994282:C:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19994283C>G, NC_000002.11:g.20194044C>G, NG_021212.1:g.841G>C, NG_008087.1:g.23412G>C

Select item 14908231167.

rs1490823116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:20009128 (GRCh38)
2:20208889 (GRCh37)
Canonical SPDI:: NC_000002.12:20009127:G:C
Gene:: MATN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.20009128G>C, NC_000002.11:g.20208889G>C, NG_008087.1:g.8567C>G

Select item 14904785548.

rs1490478554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:19998712 (GRCh38)
2:20198473 (GRCh37)
Canonical SPDI:: NC_000002.12:19998711:C:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.19998712C>G, NC_000002.11:g.20198473C>G, NG_008087.1:g.18983G>C

Select item 14904717819.

rs1490471781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:20000447 (GRCh38)
2:20200208 (GRCh37)
Canonical SPDI:: NC_000002.12:20000446:A:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.20000447A>G, NC_000002.11:g.20200208A>G, NG_008087.1:g.17248T>C, NM_002381.5:c.1162T>C, NM_002381.4:c.1162T>C, NP_002372.1:p.Cys388Arg

Select item 149044946210.

rs1490449462 has merged into rs56100312 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:19999638 (GRCh38)
2:20199399 (GRCh37)
Canonical SPDI:: NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:19999626:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.19999638_19999650del, NC_000002.12:g.19999639_19999650del, NC_000002.12:g.19999640_19999650del, NC_000002.12:g.19999641_19999650del, NC_000002.12:g.19999642_19999650del, NC_000002.12:g.19999643_19999650del, NC_000002.12:g.19999644_19999650del, NC_000002.12:g.19999645_19999650del, NC_000002.12:g.19999646_19999650del, NC_000002.12:g.19999647_19999650del, NC_000002.12:g.19999648_19999650del, NC_000002.12:g.19999649_19999650del, NC_000002.12:g.19999650del, NC_000002.12:g.19999650dup, NC_000002.12:g.19999649_19999650dup, NC_000002.12:g.19999648_19999650dup, NC_000002.12:g.19999647_19999650dup, NC_000002.12:g.19999646_19999650dup, NC_000002.12:g.19999641_19999650dup, NC_000002.12:g.19999636_19999650dup, NC_000002.12:g.19999631_19999650dup, NC_000002.11:g.20199399_20199411del, NC_000002.11:g.20199400_20199411del, NC_000002.11:g.20199401_20199411del, NC_000002.11:g.20199402_20199411del, NC_000002.11:g.20199403_20199411del, NC_000002.11:g.20199404_20199411del, NC_000002.11:g.20199405_20199411del, NC_000002.11:g.20199406_20199411del, NC_000002.11:g.20199407_20199411del, NC_000002.11:g.20199408_20199411del, NC_000002.11:g.20199409_20199411del, NC_000002.11:g.20199410_20199411del, NC_000002.11:g.20199411del, NC_000002.11:g.20199411dup, NC_000002.11:g.20199410_20199411dup, NC_000002.11:g.20199409_20199411dup, NC_000002.11:g.20199408_20199411dup, NC_000002.11:g.20199407_20199411dup, NC_000002.11:g.20199402_20199411dup, NC_000002.11:g.20199397_20199411dup, NC_000002.11:g.20199392_20199411dup, NG_008087.1:g.18056_18068del, NG_008087.1:g.18057_18068del, NG_008087.1:g.18058_18068del, NG_008087.1:g.18059_18068del, NG_008087.1:g.18060_18068del, NG_008087.1:g.18061_18068del, NG_008087.1:g.18062_18068del, NG_008087.1:g.18063_18068del, NG_008087.1:g.18064_18068del, NG_008087.1:g.18065_18068del, NG_008087.1:g.18066_18068del, NG_008087.1:g.18067_18068del, NG_008087.1:g.18068del, NG_008087.1:g.18068dup, NG_008087.1:g.18067_18068dup, NG_008087.1:g.18066_18068dup, NG_008087.1:g.18065_18068dup, NG_008087.1:g.18064_18068dup, NG_008087.1:g.18059_18068dup, NG_008087.1:g.18054_18068dup, NG_008087.1:g.18049_18068dup

Select item 148999861911.

rs1489998619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:19993990 (GRCh38)
2:20193751 (GRCh37)
Canonical SPDI:: NC_000002.12:19993989:C:A
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.19993990C>A, NC_000002.11:g.20193751C>A, NG_021212.1:g.1134G>T, NG_008087.1:g.23705G>T

Select item 148999294912.

rs1489992949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:20004969 (GRCh38)
2:20204730 (GRCh37)
Canonical SPDI:: NC_000002.12:20004968:T:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.20004969T>G, NC_000002.11:g.20204730T>G, NG_008087.1:g.12726A>C

Select item 148989619513.

rs1489896195 has merged into rs200172216 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAA [Show Flanks]
Chromosome:: 2:20007227 (GRCh38)
2:20206988 (GRCh37)
Canonical SPDI:: NC_000002.12:20007219:AAAAAAAAAA:AAAAAAA,NC_000002.12:20007219:AAAAAAAAAA:AAAAAAAAA,NC_000002.12:20007219:AAAAAAAAAA:AAAAAAAAAAA
Gene:: MATN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.20007227_20007229del, NC_000002.12:g.20007229del, NC_000002.12:g.20007229dup, NC_000002.11:g.20206988_20206990del, NC_000002.11:g.20206990del, NC_000002.11:g.20206990dup, NG_008087.1:g.10473_10475del, NG_008087.1:g.10475del, NG_008087.1:g.10475dup

Select item 148985993214.

rs1489859932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:20002779 (GRCh38)
2:20202540 (GRCh37)
Canonical SPDI:: NC_000002.12:20002778:A:T
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0051/23 (ALFA)
HGVS:: NC_000002.12:g.20002779A>T, NC_000002.11:g.20202540A>T, NG_008087.1:g.14916T>A

Select item 148974592715.

rs1489745927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:20006195 (GRCh38)
2:20205956 (GRCh37)
Canonical SPDI:: NC_000002.12:20006194:C:T
Gene:: MATN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.20006195C>T, NC_000002.11:g.20205956C>T, NG_008087.1:g.11500G>A, NM_002381.5:c.339G>A, NM_002381.4:c.339G>A

Select item 148955688316.

rs1489556883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:20006168 (GRCh38)
2:20205929 (GRCh37)
Canonical SPDI:: NC_000002.12:20006167:C:A,NC_000002.12:20006167:C:T
Gene:: MATN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.20006168C>A, NC_000002.12:g.20006168C>T, NC_000002.11:g.20205929C>A, NC_000002.11:g.20205929C>T, NG_008087.1:g.11527G>T, NG_008087.1:g.11527G>A, NM_002381.5:c.366G>T, NM_002381.5:c.366G>A, NM_002381.4:c.366G>T, NM_002381.4:c.366G>A

Select item 148950415617.

rs1489504156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:20002397 (GRCh38)
2:20202158 (GRCh37)
Canonical SPDI:: NC_000002.12:20002396:T:C
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.20002397T>C, NC_000002.11:g.20202158T>C, NG_008087.1:g.15298A>G

Select item 148947555718.

rs1489475557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:20001460 (GRCh38)
2:20201221 (GRCh37)
Canonical SPDI:: NC_000002.12:20001459:A:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.20001460A>G, NC_000002.11:g.20201221A>G, NG_008087.1:g.16235T>C

Select item 148944545219.

rs1489445452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:19994454 (GRCh38)
2:20194215 (GRCh37)
Canonical SPDI:: NC_000002.12:19994453:A:C,NC_000002.12:19994453:A:G
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.19994454A>C, NC_000002.12:g.19994454A>G, NC_000002.11:g.20194215A>C, NC_000002.11:g.20194215A>G, NG_021212.1:g.670T>G, NG_021212.1:g.670T>C, NG_008087.1:g.23241T>G, NG_008087.1:g.23241T>C

Select item 148941519820.

rs1489415198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:19993167 (GRCh38)
2:20192928 (GRCh37)
Canonical SPDI:: NC_000002.12:19993166:G:A
Gene:: MATN3 (Varview), WDR35-DT (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.19993167G>A, NC_000002.11:g.20192928G>A, NG_021212.1:g.1957C>T, NG_008087.1:g.24528C>T

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