SNP Links for Nucleotide (Select 299473780) - SNP

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Select item 14910269361.

rs1491026936 has merged into rs71604877 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37813571 (GRCh38)
5:37813673 (GRCh37)
Canonical SPDI:: NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37813560:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.37813571_37813583del, NC_000005.10:g.37813573_37813583del, NC_000005.10:g.37813574_37813583del, NC_000005.10:g.37813575_37813583del, NC_000005.10:g.37813576_37813583del, NC_000005.10:g.37813577_37813583del, NC_000005.10:g.37813578_37813583del, NC_000005.10:g.37813579_37813583del, NC_000005.10:g.37813580_37813583del, NC_000005.10:g.37813581_37813583del, NC_000005.10:g.37813582_37813583del, NC_000005.10:g.37813583del, NC_000005.10:g.37813583dup, NC_000005.10:g.37813582_37813583dup, NC_000005.10:g.37813581_37813583dup, NC_000005.10:g.37813580_37813583dup, NC_000005.10:g.37813579_37813583dup, NC_000005.10:g.37813578_37813583dup, NC_000005.10:g.37813577_37813583dup, NC_000005.10:g.37813576_37813583dup, NC_000005.10:g.37813575_37813583dup, NC_000005.10:g.37813574_37813583dup, NC_000005.10:g.37813573_37813583dup, NC_000005.10:g.37813572_37813583dup, NC_000005.10:g.37813583_37813584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.37813583_37813584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.37813583_37813584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.37813583_37813584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.37813673_37813685del, NC_000005.9:g.37813675_37813685del, NC_000005.9:g.37813676_37813685del, NC_000005.9:g.37813677_37813685del, NC_000005.9:g.37813678_37813685del, NC_000005.9:g.37813679_37813685del, NC_000005.9:g.37813680_37813685del, NC_000005.9:g.37813681_37813685del, NC_000005.9:g.37813682_37813685del, NC_000005.9:g.37813683_37813685del, NC_000005.9:g.37813684_37813685del, NC_000005.9:g.37813685del, NC_000005.9:g.37813685dup, NC_000005.9:g.37813684_37813685dup, NC_000005.9:g.37813683_37813685dup, NC_000005.9:g.37813682_37813685dup, NC_000005.9:g.37813681_37813685dup, NC_000005.9:g.37813680_37813685dup, NC_000005.9:g.37813679_37813685dup, NC_000005.9:g.37813678_37813685dup, NC_000005.9:g.37813677_37813685dup, NC_000005.9:g.37813676_37813685dup, NC_000005.9:g.37813675_37813685dup, NC_000005.9:g.37813674_37813685dup, NC_000005.9:g.37813685_37813686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.37813685_37813686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.37813685_37813686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.37813685_37813686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011675.2:g.31108_31120del, NG_011675.2:g.31110_31120del, NG_011675.2:g.31111_31120del, NG_011675.2:g.31112_31120del, NG_011675.2:g.31113_31120del, NG_011675.2:g.31114_31120del, NG_011675.2:g.31115_31120del, NG_011675.2:g.31116_31120del, NG_011675.2:g.31117_31120del, NG_011675.2:g.31118_31120del, NG_011675.2:g.31119_31120del, NG_011675.2:g.31120del, NG_011675.2:g.31120dup, NG_011675.2:g.31119_31120dup, NG_011675.2:g.31118_31120dup, NG_011675.2:g.31117_31120dup, NG_011675.2:g.31116_31120dup, NG_011675.2:g.31115_31120dup, NG_011675.2:g.31114_31120dup, NG_011675.2:g.31113_31120dup, NG_011675.2:g.31112_31120dup, NG_011675.2:g.31111_31120dup, NG_011675.2:g.31110_31120dup, NG_011675.2:g.31109_31120dup, NG_011675.2:g.31120_31121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011675.2:g.31120_31121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011675.2:g.31120_31121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011675.2:g.31120_31121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.4:c.*2078_*2090del, NM_000514.4:c.*2080_*2090del, NM_000514.4:c.*2081_*2090del, NM_000514.4:c.*2082_*2090del, NM_000514.4:c.*2083_*2090del, NM_000514.4:c.*2084_*2090del, NM_000514.4:c.*2085_*2090del, NM_000514.4:c.*2086_*2090del, NM_000514.4:c.*2087_*2090del, NM_000514.4:c.*2088_*2090del, NM_000514.4:c.*2089_*2090del, NM_000514.4:c.*2090del, NM_000514.4:c.*2090dup, NM_000514.4:c.*2089_*2090dup, NM_000514.4:c.*2088_*2090dup, NM_000514.4:c.*2087_*2090dup, NM_000514.4:c.*2086_*2090dup, NM_000514.4:c.*2085_*2090dup, NM_000514.4:c.*2084_*2090dup, NM_000514.4:c.*2083_*2090dup, NM_000514.4:c.*2082_*2090dup, NM_000514.4:c.*2081_*2090dup, NM_000514.4:c.*2080_*2090dup, NM_000514.4:c.*2079_*2090dup, NM_000514.4:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.4:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.4:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.4:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.3:c.*2078_*2090del, NM_000514.3:c.*2080_*2090del, NM_000514.3:c.*2081_*2090del, NM_000514.3:c.*2082_*2090del, NM_000514.3:c.*2083_*2090del, NM_000514.3:c.*2084_*2090del, NM_000514.3:c.*2085_*2090del, NM_000514.3:c.*2086_*2090del, NM_000514.3:c.*2087_*2090del, NM_000514.3:c.*2088_*2090del, NM_000514.3:c.*2089_*2090del, NM_000514.3:c.*2090del, NM_000514.3:c.*2090dup, NM_000514.3:c.*2089_*2090dup, NM_000514.3:c.*2088_*2090dup, NM_000514.3:c.*2087_*2090dup, NM_000514.3:c.*2086_*2090dup, NM_000514.3:c.*2085_*2090dup, NM_000514.3:c.*2084_*2090dup, NM_000514.3:c.*2083_*2090dup, NM_000514.3:c.*2082_*2090dup, NM_000514.3:c.*2081_*2090dup, NM_000514.3:c.*2080_*2090dup, NM_000514.3:c.*2079_*2090dup, NM_000514.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_000514.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_199231.2:c.*2078_*2090del, NM_199231.2:c.*2080_*2090del, NM_199231.2:c.*2081_*2090del, NM_199231.2:c.*2082_*2090del, NM_199231.2:c.*2083_*2090del, NM_199231.2:c.*2084_*2090del, NM_199231.2:c.*2085_*2090del, NM_199231.2:c.*2086_*2090del, NM_199231.2:c.*2087_*2090del, NM_199231.2:c.*2088_*2090del, NM_199231.2:c.*2089_*2090del, NM_199231.2:c.*2090del, NM_199231.2:c.*2090dup, NM_199231.2:c.*2089_*2090dup, NM_199231.2:c.*2088_*2090dup, NM_199231.2:c.*2087_*2090dup, NM_199231.2:c.*2086_*2090dup, NM_199231.2:c.*2085_*2090dup, NM_199231.2:c.*2084_*2090dup, NM_199231.2:c.*2083_*2090dup, NM_199231.2:c.*2082_*2090dup, NM_199231.2:c.*2081_*2090dup, NM_199231.2:c.*2080_*2090dup, NM_199231.2:c.*2079_*2090dup, NM_199231.2:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_199231.2:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_199231.2:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_199231.2:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190468.1:c.*2078_*2090del, NM_001190468.1:c.*2080_*2090del, NM_001190468.1:c.*2081_*2090del, NM_001190468.1:c.*2082_*2090del, NM_001190468.1:c.*2083_*2090del, NM_001190468.1:c.*2084_*2090del, NM_001190468.1:c.*2085_*2090del, NM_001190468.1:c.*2086_*2090del, NM_001190468.1:c.*2087_*2090del, NM_001190468.1:c.*2088_*2090del, NM_001190468.1:c.*2089_*2090del, NM_001190468.1:c.*2090del, NM_001190468.1:c.*2090dup, NM_001190468.1:c.*2089_*2090dup, NM_001190468.1:c.*2088_*2090dup, NM_001190468.1:c.*2087_*2090dup, NM_001190468.1:c.*2086_*2090dup, NM_001190468.1:c.*2085_*2090dup, NM_001190468.1:c.*2084_*2090dup, NM_001190468.1:c.*2083_*2090dup, NM_001190468.1:c.*2082_*2090dup, NM_001190468.1:c.*2081_*2090dup, NM_001190468.1:c.*2080_*2090dup, NM_001190468.1:c.*2079_*2090dup, NM_001190468.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190468.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190468.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190468.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190469.1:c.*2078_*2090del, NM_001190469.1:c.*2080_*2090del, NM_001190469.1:c.*2081_*2090del, NM_001190469.1:c.*2082_*2090del, NM_001190469.1:c.*2083_*2090del, NM_001190469.1:c.*2084_*2090del, NM_001190469.1:c.*2085_*2090del, NM_001190469.1:c.*2086_*2090del, NM_001190469.1:c.*2087_*2090del, NM_001190469.1:c.*2088_*2090del, NM_001190469.1:c.*2089_*2090del, NM_001190469.1:c.*2090del, NM_001190469.1:c.*2090dup, NM_001190469.1:c.*2089_*2090dup, NM_001190469.1:c.*2088_*2090dup, NM_001190469.1:c.*2087_*2090dup, NM_001190469.1:c.*2086_*2090dup, NM_001190469.1:c.*2085_*2090dup, NM_001190469.1:c.*2084_*2090dup, NM_001190469.1:c.*2083_*2090dup, NM_001190469.1:c.*2082_*2090dup, NM_001190469.1:c.*2081_*2090dup, NM_001190469.1:c.*2080_*2090dup, NM_001190469.1:c.*2079_*2090dup, NM_001190469.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190469.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190469.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001190469.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001278098.1:c.*2078_*2090del, NM_001278098.1:c.*2080_*2090del, NM_001278098.1:c.*2081_*2090del, NM_001278098.1:c.*2082_*2090del, NM_001278098.1:c.*2083_*2090del, NM_001278098.1:c.*2084_*2090del, NM_001278098.1:c.*2085_*2090del, NM_001278098.1:c.*2086_*2090del, NM_001278098.1:c.*2087_*2090del, NM_001278098.1:c.*2088_*2090del, NM_001278098.1:c.*2089_*2090del, NM_001278098.1:c.*2090del, NM_001278098.1:c.*2090dup, NM_001278098.1:c.*2089_*2090dup, NM_001278098.1:c.*2088_*2090dup, NM_001278098.1:c.*2087_*2090dup, NM_001278098.1:c.*2086_*2090dup, NM_001278098.1:c.*2085_*2090dup, NM_001278098.1:c.*2084_*2090dup, NM_001278098.1:c.*2083_*2090dup, NM_001278098.1:c.*2082_*2090dup, NM_001278098.1:c.*2081_*2090dup, NM_001278098.1:c.*2080_*2090dup, NM_001278098.1:c.*2079_*2090dup, NM_001278098.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001278098.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001278098.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001278098.1:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017009337.3:c.*2078_*2090del, XM_017009337.3:c.*2080_*2090del, XM_017009337.3:c.*2081_*2090del, XM_017009337.3:c.*2082_*2090del, XM_017009337.3:c.*2083_*2090del, XM_017009337.3:c.*2084_*2090del, XM_017009337.3:c.*2085_*2090del, XM_017009337.3:c.*2086_*2090del, XM_017009337.3:c.*2087_*2090del, XM_017009337.3:c.*2088_*2090del, XM_017009337.3:c.*2089_*2090del, XM_017009337.3:c.*2090del, XM_017009337.3:c.*2090dup, XM_017009337.3:c.*2089_*2090dup, XM_017009337.3:c.*2088_*2090dup, XM_017009337.3:c.*2087_*2090dup, XM_017009337.3:c.*2086_*2090dup, XM_017009337.3:c.*2085_*2090dup, XM_017009337.3:c.*2084_*2090dup, XM_017009337.3:c.*2083_*2090dup, XM_017009337.3:c.*2082_*2090dup, XM_017009337.3:c.*2081_*2090dup, XM_017009337.3:c.*2080_*2090dup, XM_017009337.3:c.*2079_*2090dup, XM_017009337.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017009337.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017009337.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017009337.3:c.*2090_*2091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14902334532.

rs1490233453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:37813666 (GRCh38)
5:37813768 (GRCh37)
Canonical SPDI:: NC_000005.10:37813665:A:G,NC_000005.10:37813665:A:T
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.37813666A>G, NC_000005.10:g.37813666A>T, NC_000005.9:g.37813768A>G, NC_000005.9:g.37813768A>T, NG_011675.2:g.31015T>C, NG_011675.2:g.31015T>A, NM_000514.4:c.*1985T>C, NM_000514.4:c.*1985T>A, NM_000514.3:c.*1985T>C, NM_000514.3:c.*1985T>A, NM_199231.2:c.*1985T>C, NM_199231.2:c.*1985T>A, NM_001190468.1:c.*1985T>C, NM_001190468.1:c.*1985T>A, NM_001190469.1:c.*1985T>C, NM_001190469.1:c.*1985T>A, NM_001278098.1:c.*1985T>C, NM_001278098.1:c.*1985T>A, XM_017009337.3:c.*1985T>C, XM_017009337.3:c.*1985T>A

Select item 14893729103.

rs1489372910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:37815806 (GRCh38)
5:37815908 (GRCh37)
Canonical SPDI:: NC_000005.10:37815805:T:C
Gene:: GDNF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.37815806T>C, NC_000005.9:g.37815908T>C, NG_011675.2:g.28875A>G, NM_000514.4:c.481A>G, NM_000514.3:c.481A>G, NM_199231.2:c.403A>G, NM_001190468.1:c.532A>G, NM_001190469.1:c.454A>G, NM_001278098.1:c.325A>G, XM_017009337.3:c.403A>G, XM_017009337.2:c.403A>G, XM_017009337.1:c.403A>G, NM_199234.1:c.247A>G, NP_000505.1:p.Lys161Glu, NP_954701.1:p.Lys135Glu, NP_001177397.1:p.Lys178Glu, NP_001177398.1:p.Lys152Glu, NP_001265027.1:p.Lys109Glu, XP_016864826.1:p.Lys135Glu

Select item 14892552194.

rs1489255219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:37815980 (GRCh38)
5:37816082 (GRCh37)
Canonical SPDI:: NC_000005.10:37815979:A:G
Gene:: GDNF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.37815980A>G, NC_000005.9:g.37816082A>G, NG_011675.2:g.28701T>C, NM_000514.4:c.307T>C, NM_000514.3:c.307T>C, NM_199231.2:c.229T>C, NM_001190468.1:c.358T>C, NM_001190469.1:c.280T>C, NM_001278098.1:c.151T>C, XM_017009337.3:c.229T>C, XM_017009337.2:c.229T>C, XM_017009337.1:c.229T>C, NM_199234.1:c.73T>C, NP_000505.1:p.Ser103Pro, NP_954701.1:p.Ser77Pro, NP_001177397.1:p.Ser120Pro, NP_001177398.1:p.Ser94Pro, NP_001265027.1:p.Ser51Pro, XP_016864826.1:p.Ser77Pro

Select item 14892250175.

rs1489225017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:37814960 (GRCh38)
5:37815062 (GRCh37)
Canonical SPDI:: NC_000005.10:37814959:T:C
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.37814960T>C, NC_000005.9:g.37815062T>C, NG_011675.2:g.29721A>G, NM_000514.4:c.*691A>G, NM_000514.3:c.*691A>G, NM_199231.2:c.*691A>G, NM_001190468.1:c.*691A>G, NM_001190469.1:c.*691A>G, NM_001278098.1:c.*691A>G, XM_017009337.3:c.*691A>G

Select item 14889736286.

rs1488973628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:37813002 (GRCh38)
5:37813104 (GRCh37)
Canonical SPDI:: NC_000005.10:37813001:T:G
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.37813002T>G, NC_000005.9:g.37813104T>G, NG_011675.2:g.31679A>C, NM_000514.4:c.*2649A>C, NM_000514.3:c.*2649A>C, NM_199231.2:c.*2649A>C, NM_001190468.1:c.*2649A>C, NM_001190469.1:c.*2649A>C, NM_001278098.1:c.*2649A>C, XM_017009337.3:c.*2649A>C

Select item 14859399297.

rs1485939929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:37814009 (GRCh38)
5:37814111 (GRCh37)
Canonical SPDI:: NC_000005.10:37814008:C:T
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.37814009C>T, NC_000005.9:g.37814111C>T, NG_011675.2:g.30672G>A, NM_000514.4:c.*1642G>A, NM_000514.3:c.*1642G>A, NM_199231.2:c.*1642G>A, NM_001190468.1:c.*1642G>A, NM_001190469.1:c.*1642G>A, NM_001278098.1:c.*1642G>A, XM_017009337.3:c.*1642G>A

Select item 14856169968.

rs1485616996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:37814459 (GRCh38)
5:37814561 (GRCh37)
Canonical SPDI:: NC_000005.10:37814458:A:G
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.37814459A>G, NC_000005.9:g.37814561A>G, NG_011675.2:g.30222T>C, NM_000514.4:c.*1192T>C, NM_000514.3:c.*1192T>C, NM_199231.2:c.*1192T>C, NM_001190468.1:c.*1192T>C, NM_001190469.1:c.*1192T>C, NM_001278098.1:c.*1192T>C, XM_017009337.3:c.*1192T>C

Select item 14853501349.

rs1485350134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:37813590 (GRCh38)
5:37813692 (GRCh37)
Canonical SPDI:: NC_000005.10:37813589:G:T
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.37813590G>T, NC_000005.9:g.37813692G>T, NG_011675.2:g.31091C>A, NM_000514.4:c.*2061C>A, NM_000514.3:c.*2061C>A, NM_199231.2:c.*2061C>A, NM_001190468.1:c.*2061C>A, NM_001190469.1:c.*2061C>A, NM_001278098.1:c.*2061C>A, XM_017009337.3:c.*2061C>A

Select item 148490868110.

rs1484908681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:37835792 (GRCh38)
5:37835894 (GRCh37)
Canonical SPDI:: NC_000005.10:37835791:C:A,NC_000005.10:37835791:C:T
Gene:: GDNF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00025/4 (TOMMO)
HGVS:: NC_000005.10:g.37835792C>A, NC_000005.10:g.37835792C>T, NC_000005.9:g.37835894C>A, NC_000005.9:g.37835894C>T, NG_011675.2:g.8889G>T, NG_011675.2:g.8889G>A, NM_001190468.1:c.-134G>T, NM_001190468.1:c.-134G>A, NM_001190469.1:c.-134G>T, NM_001190469.1:c.-134G>A

Select item 148479801911.

rs1484798019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:37812937 (GRCh38)
5:37813039 (GRCh37)
Canonical SPDI:: NC_000005.10:37812936:A:G
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.37812937A>G, NC_000005.9:g.37813039A>G, NG_011675.2:g.31744T>C, NM_000514.4:c.*2714T>C, NM_000514.3:c.*2714T>C, NM_199231.2:c.*2714T>C, NM_001190468.1:c.*2714T>C, NM_001190469.1:c.*2714T>C, NM_001278098.1:c.*2714T>C, XM_017009337.3:c.*2714T>C

Select item 148314712512.

rs1483147125 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAA>- [Show Flanks]
Chromosome:: 5:37814636 (GRCh38)
5:37814738 (GRCh37)
Canonical SPDI:: NC_000005.10:37814630:AATAAATAA:AATAA
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AATAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.37814632ATAA[1], NC_000005.9:g.37814734ATAA[1], NG_011675.2:g.30043TATT[1], NM_000514.4:c.*1013TATT[1], NM_000514.3:c.*1013TATT[1], NM_199231.2:c.*1013TATT[1], NM_001190468.1:c.*1013TATT[1], NM_001190469.1:c.*1013TATT[1], NM_001278098.1:c.*1013TATT[1], XM_017009337.3:c.*1013TATT[1]

Select item 148310398613.

rs1483103986 has merged into rs150577324 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCTCCTCCTCCTCCTC>-,CTC,CTCCTC,CTCCTCCTC,CTCCTCCTCCTC,CTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC [Show Flanks]
Chromosome:: 5:37815505 (GRCh38)
5:37815607 (GRCh37)
Canonical SPDI:: NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000005.10:37815487:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCCTCCTCCTCCTCCTC=0./0 (ALFA)
-=0.040218/155 (ALSPAC)
-=0.141377/37421 (TOPMED)
-=0.175/7 (GENOME_DK)
-=0.217252/1088 (1000Genomes)
HGVS:: NC_000005.10:g.37815490CTC[5], NC_000005.10:g.37815490CTC[6], NC_000005.10:g.37815490CTC[7], NC_000005.10:g.37815490CTC[8], NC_000005.10:g.37815490CTC[9], NC_000005.10:g.37815490CTC[10], NC_000005.10:g.37815490CTC[12], NC_000005.10:g.37815490CTC[13], NC_000005.10:g.37815490CTC[14], NC_000005.10:g.37815490CTC[15], NC_000005.10:g.37815490CTC[16], NC_000005.10:g.37815490CTC[17], NC_000005.10:g.37815490CTC[18], NC_000005.10:g.37815490CTC[19], NC_000005.10:g.37815490CTC[20], NC_000005.10:g.37815490CTC[22], NC_000005.9:g.37815592CTC[5], NC_000005.9:g.37815592CTC[6], NC_000005.9:g.37815592CTC[7], NC_000005.9:g.37815592CTC[8], NC_000005.9:g.37815592CTC[9], NC_000005.9:g.37815592CTC[10], NC_000005.9:g.37815592CTC[12], NC_000005.9:g.37815592CTC[13], NC_000005.9:g.37815592CTC[14], NC_000005.9:g.37815592CTC[15], NC_000005.9:g.37815592CTC[16], NC_000005.9:g.37815592CTC[17], NC_000005.9:g.37815592CTC[18], NC_000005.9:g.37815592CTC[19], NC_000005.9:g.37815592CTC[20], NC_000005.9:g.37815592CTC[22], NG_011675.2:g.29161GGA[5], NG_011675.2:g.29161GGA[6], NG_011675.2:g.29161GGA[7], NG_011675.2:g.29161GGA[8], NG_011675.2:g.29161GGA[9], NG_011675.2:g.29161GGA[10], NG_011675.2:g.29161GGA[12], NG_011675.2:g.29161GGA[13], NG_011675.2:g.29161GGA[14], NG_011675.2:g.29161GGA[15], NG_011675.2:g.29161GGA[16], NG_011675.2:g.29161GGA[17], NG_011675.2:g.29161GGA[18], NG_011675.2:g.29161GGA[19], NG_011675.2:g.29161GGA[20], NG_011675.2:g.29161GGA[22], NM_000514.4:c.*131GGA[5], NM_000514.4:c.*131GGA[6], NM_000514.4:c.*131GGA[7], NM_000514.4:c.*131GGA[8], NM_000514.4:c.*131GGA[9], NM_000514.4:c.*131GGA[10], NM_000514.4:c.*131GGA[12], NM_000514.4:c.*131GGA[13], NM_000514.4:c.*131GGA[14], NM_000514.4:c.*131GGA[15], NM_000514.4:c.*131GGA[16], NM_000514.4:c.*131GGA[17], NM_000514.4:c.*131GGA[18], NM_000514.4:c.*131GGA[19], NM_000514.4:c.*131GGA[20], NM_000514.4:c.*131GGA[22], NM_000514.3:c.*131GGA[5], NM_000514.3:c.*131GGA[6], NM_000514.3:c.*131GGA[7], NM_000514.3:c.*131GGA[8], NM_000514.3:c.*131GGA[9], NM_000514.3:c.*131GGA[10], NM_000514.3:c.*131GGA[12], NM_000514.3:c.*131GGA[13], NM_000514.3:c.*131GGA[14], NM_000514.3:c.*131GGA[15], NM_000514.3:c.*131GGA[16], NM_000514.3:c.*131GGA[17], NM_000514.3:c.*131GGA[18], NM_000514.3:c.*131GGA[19], NM_000514.3:c.*131GGA[20], NM_000514.3:c.*131GGA[22], NM_199231.2:c.*131GGA[5], NM_199231.2:c.*131GGA[6], NM_199231.2:c.*131GGA[7], NM_199231.2:c.*131GGA[8], NM_199231.2:c.*131GGA[9], NM_199231.2:c.*131GGA[10], NM_199231.2:c.*131GGA[12], NM_199231.2:c.*131GGA[13], NM_199231.2:c.*131GGA[14], NM_199231.2:c.*131GGA[15], NM_199231.2:c.*131GGA[16], NM_199231.2:c.*131GGA[17], NM_199231.2:c.*131GGA[18], NM_199231.2:c.*131GGA[19], NM_199231.2:c.*131GGA[20], NM_199231.2:c.*131GGA[22], NM_001190468.1:c.*131GGA[5], NM_001190468.1:c.*131GGA[6], NM_001190468.1:c.*131GGA[7], NM_001190468.1:c.*131GGA[8], NM_001190468.1:c.*131GGA[9], NM_001190468.1:c.*131GGA[10], NM_001190468.1:c.*131GGA[12], NM_001190468.1:c.*131GGA[13], NM_001190468.1:c.*131GGA[14], NM_001190468.1:c.*131GGA[15], NM_001190468.1:c.*131GGA[16], NM_001190468.1:c.*131GGA[17], NM_001190468.1:c.*131GGA[18], NM_001190468.1:c.*131GGA[19], NM_001190468.1:c.*131GGA[20], NM_001190468.1:c.*131GGA[22], NM_001190469.1:c.*131GGA[5], NM_001190469.1:c.*131GGA[6], NM_001190469.1:c.*131GGA[7], NM_001190469.1:c.*131GGA[8], NM_001190469.1:c.*131GGA[9], NM_001190469.1:c.*131GGA[10], NM_001190469.1:c.*131GGA[12], NM_001190469.1:c.*131GGA[13], NM_001190469.1:c.*131GGA[14], NM_001190469.1:c.*131GGA[15], NM_001190469.1:c.*131GGA[16], NM_001190469.1:c.*131GGA[17], NM_001190469.1:c.*131GGA[18], NM_001190469.1:c.*131GGA[19], NM_001190469.1:c.*131GGA[20], NM_001190469.1:c.*131GGA[22], NM_001278098.1:c.*131GGA[5], NM_001278098.1:c.*131GGA[6], NM_001278098.1:c.*131GGA[7], NM_001278098.1:c.*131GGA[8], NM_001278098.1:c.*131GGA[9], NM_001278098.1:c.*131GGA[10], NM_001278098.1:c.*131GGA[12], NM_001278098.1:c.*131GGA[13], NM_001278098.1:c.*131GGA[14], NM_001278098.1:c.*131GGA[15], NM_001278098.1:c.*131GGA[16], NM_001278098.1:c.*131GGA[17], NM_001278098.1:c.*131GGA[18], NM_001278098.1:c.*131GGA[19], NM_001278098.1:c.*131GGA[20], NM_001278098.1:c.*131GGA[22], XM_017009337.3:c.*131GGA[5], XM_017009337.3:c.*131GGA[6], XM_017009337.3:c.*131GGA[7], XM_017009337.3:c.*131GGA[8], XM_017009337.3:c.*131GGA[9], XM_017009337.3:c.*131GGA[10], XM_017009337.3:c.*131GGA[12], XM_017009337.3:c.*131GGA[13], XM_017009337.3:c.*131GGA[14], XM_017009337.3:c.*131GGA[15], XM_017009337.3:c.*131GGA[16], XM_017009337.3:c.*131GGA[17], XM_017009337.3:c.*131GGA[18], XM_017009337.3:c.*131GGA[19], XM_017009337.3:c.*131GGA[20], XM_017009337.3:c.*131GGA[22], XM_017009337.2:c.*131GGA[11], XM_017009337.2:c.*131GGA[5], XM_017009337.2:c.*131GGA[6], XM_017009337.2:c.*131GGA[7], XM_017009337.2:c.*131GGA[8], XM_017009337.2:c.*131GGA[9], XM_017009337.2:c.*131GGA[10], XM_017009337.2:c.*131GGA[12], XM_017009337.2:c.*131GGA[13], XM_017009337.2:c.*131GGA[14], XM_017009337.2:c.*131GGA[15], XM_017009337.2:c.*131GGA[16], XM_017009337.2:c.*131GGA[17], XM_017009337.2:c.*131GGA[18], XM_017009337.2:c.*131GGA[19], XM_017009337.2:c.*131GGA[20], XM_017009337.2:c.*131GGA[22], XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA, XM_017009337.1:c.*129_*130insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA

Select item 148306246814.

rs1483062468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:37812736 (GRCh38)
5:37812838 (GRCh37)
Canonical SPDI:: NC_000005.10:37812735:G:A
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.37812736G>A, NC_000005.9:g.37812838G>A, NG_011675.2:g.31945C>T, NM_000514.4:c.*2915C>T, NM_000514.3:c.*2915C>T, NM_199231.2:c.*2915C>T, NM_001190468.1:c.*2915C>T, NM_001190469.1:c.*2915C>T, NM_001278098.1:c.*2915C>T, XM_017009337.3:c.*2915C>T

Select item 148272818015.

rs1482728180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:37815793 (GRCh38)
5:37815895 (GRCh37)
Canonical SPDI:: NC_000005.10:37815792:C:A
Gene:: GDNF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.37815793C>A, NC_000005.9:g.37815895C>A, NG_011675.2:g.28888G>T, NM_000514.4:c.494G>T, NM_000514.3:c.494G>T, NM_199231.2:c.416G>T, NM_001190468.1:c.545G>T, NM_001190469.1:c.467G>T, NM_001278098.1:c.338G>T, XM_017009337.3:c.416G>T, XM_017009337.2:c.416G>T, XM_017009337.1:c.416G>T, NM_199234.1:c.260G>T, NP_000505.1:p.Arg165Ile, NP_954701.1:p.Arg139Ile, NP_001177397.1:p.Arg182Ile, NP_001177398.1:p.Arg156Ile, NP_001265027.1:p.Arg113Ile, XP_016864826.1:p.Arg139Ile

Select item 148216470316.

rs1482164703 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 148214276317.

rs1482142763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:37813641 (GRCh38)
5:37813743 (GRCh37)
Canonical SPDI:: NC_000005.10:37813640:C:T
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.37813641C>T, NC_000005.9:g.37813743C>T, NG_011675.2:g.31040G>A, NM_000514.4:c.*2010G>A, NM_000514.3:c.*2010G>A, NM_199231.2:c.*2010G>A, NM_001190468.1:c.*2010G>A, NM_001190469.1:c.*2010G>A, NM_001278098.1:c.*2010G>A, XM_017009337.3:c.*2010G>A

Select item 148207433918.

rs1482074339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:37812843 (GRCh38)
5:37812945 (GRCh37)
Canonical SPDI:: NC_000005.10:37812842:A:G
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.37812843A>G, NC_000005.9:g.37812945A>G, NG_011675.2:g.31838T>C, NM_000514.4:c.*2808T>C, NM_000514.3:c.*2808T>C, NM_199231.2:c.*2808T>C, NM_001190468.1:c.*2808T>C, NM_001190469.1:c.*2808T>C, NM_001278098.1:c.*2808T>C, XM_017009337.3:c.*2808T>C

Select item 147984197119.

rs1479841971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:37814555 (GRCh38)
5:37814657 (GRCh37)
Canonical SPDI:: NC_000005.10:37814554:A:G
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.37814555A>G, NC_000005.9:g.37814657A>G, NG_011675.2:g.30126T>C, NM_000514.4:c.*1096T>C, NM_000514.3:c.*1096T>C, NM_199231.2:c.*1096T>C, NM_001190468.1:c.*1096T>C, NM_001190469.1:c.*1096T>C, NM_001278098.1:c.*1096T>C, XM_017009337.3:c.*1096T>C

Select item 147858468520.

rs1478584685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:37814050 (GRCh38)
5:37814152 (GRCh37)
Canonical SPDI:: NC_000005.10:37814049:C:T
Gene:: GDNF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.37814050C>T, NC_000005.9:g.37814152C>T, NG_011675.2:g.30631G>A, NM_000514.4:c.*1601G>A, NM_000514.3:c.*1601G>A, NM_199231.2:c.*1601G>A, NM_001190468.1:c.*1601G>A, NM_001190469.1:c.*1601G>A, NM_001278098.1:c.*1601G>A, XM_017009337.3:c.*1601G>A

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