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Select item 14914776941.

rs1491477694 has merged into rs67695235 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:49699195 (GRCh38)
10:50907241 (GRCh37)
Canonical SPDI:: NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C10orf53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.49699195_49699214del, NC_000010.11:g.49699202_49699214del, NC_000010.11:g.49699203_49699214del, NC_000010.11:g.49699204_49699214del, NC_000010.11:g.49699205_49699214del, NC_000010.11:g.49699206_49699214del, NC_000010.11:g.49699207_49699214del, NC_000010.11:g.49699208_49699214del, NC_000010.11:g.49699209_49699214del, NC_000010.11:g.49699210_49699214del, NC_000010.11:g.49699211_49699214del, NC_000010.11:g.49699212_49699214del, NC_000010.11:g.49699213_49699214del, NC_000010.11:g.49699214del, NC_000010.11:g.49699214dup, NC_000010.11:g.49699213_49699214dup, NC_000010.11:g.49699191_49699214T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699212_49699214dup, NC_000010.11:g.49699191_49699214T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699211_49699214dup, NC_000010.11:g.49699210_49699214dup, NC_000010.11:g.49699209_49699214dup, NC_000010.11:g.49699191_49699214T[30]GTT[2]T[35], NC_000010.11:g.49699208_49699214dup, NC_000010.11:g.49699191_49699214T[31]AATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699207_49699214dup, NC_000010.11:g.49699191_49699214T[32]GTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[32]GTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699206_49699214dup, NC_000010.11:g.49699205_49699214dup, NC_000010.11:g.49699191_49699214T[34]ATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[34]GTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699204_49699214dup, NC_000010.11:g.49699203_49699214dup, NC_000010.11:g.49699191_49699214T[36]ATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[37]CTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699199_49699214dup, NC_000010.11:g.49699191_49699214T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699197_49699214dup, NC_000010.11:g.49699195_49699214dup, NC_000010.11:g.49699194_49699214dup, NC_000010.11:g.49699193_49699214dup, NC_000010.11:g.49699192_49699214dup, NC_000010.11:g.49699191_49699214dup, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907241_50907260del, NC_000010.10:g.50907248_50907260del, NC_000010.10:g.50907249_50907260del, NC_000010.10:g.50907250_50907260del, NC_000010.10:g.50907251_50907260del, NC_000010.10:g.50907252_50907260del, NC_000010.10:g.50907253_50907260del, NC_000010.10:g.50907254_50907260del, NC_000010.10:g.50907255_50907260del, NC_000010.10:g.50907256_50907260del, NC_000010.10:g.50907257_50907260del, NC_000010.10:g.50907258_50907260del, NC_000010.10:g.50907259_50907260del, NC_000010.10:g.50907260del, NC_000010.10:g.50907260dup, NC_000010.10:g.50907259_50907260dup, NC_000010.10:g.50907237_50907260T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907258_50907260dup, NC_000010.10:g.50907237_50907260T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907257_50907260dup, NC_000010.10:g.50907256_50907260dup, NC_000010.10:g.50907255_50907260dup, NC_000010.10:g.50907237_50907260T[30]GTT[2]T[35], NC_000010.10:g.50907254_50907260dup, NC_000010.10:g.50907237_50907260T[31]AATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907253_50907260dup, NC_000010.10:g.50907237_50907260T[32]GTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[32]GTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907252_50907260dup, NC_000010.10:g.50907251_50907260dup, NC_000010.10:g.50907237_50907260T[34]ATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[34]GTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907250_50907260dup, NC_000010.10:g.50907249_50907260dup, NC_000010.10:g.50907237_50907260T[36]ATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[37]CTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907245_50907260dup, NC_000010.10:g.50907237_50907260T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907243_50907260dup, NC_000010.10:g.50907241_50907260dup, NC_000010.10:g.50907240_50907260dup, NC_000010.10:g.50907239_50907260dup, NC_000010.10:g.50907238_50907260dup, NC_000010.10:g.50907237_50907260dup, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913631262.

rs1491363126 has merged into rs71026266 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:49709987 (GRCh38)
10:50918033 (GRCh37)
Canonical SPDI:: NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:49709973:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: C10orf53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.032/16 (NorthernSweden)
-=0.034025/9006 (TOPMED)
HGVS:: NC_000010.11:g.49709975GT[6], NC_000010.11:g.49709975GT[7], NC_000010.11:g.49709975GT[8], NC_000010.11:g.49709975GT[9], NC_000010.11:g.49709975GT[10], NC_000010.11:g.49709975GT[11], NC_000010.11:g.49709975GT[12], NC_000010.11:g.49709975GT[14], NC_000010.11:g.49709975GT[15], NC_000010.11:g.49709975GT[16], NC_000010.11:g.49709975GT[17], NC_000010.10:g.50918021GT[6], NC_000010.10:g.50918021GT[7], NC_000010.10:g.50918021GT[8], NC_000010.10:g.50918021GT[9], NC_000010.10:g.50918021GT[10], NC_000010.10:g.50918021GT[11], NC_000010.10:g.50918021GT[12], NC_000010.10:g.50918021GT[14], NC_000010.10:g.50918021GT[15], NC_000010.10:g.50918021GT[16], NC_000010.10:g.50918021GT[17], NM_182554.4:c.*1358GT[6], NM_182554.4:c.*1358GT[7], NM_182554.4:c.*1358GT[8], NM_182554.4:c.*1358GT[9], NM_182554.4:c.*1358GT[10], NM_182554.4:c.*1358GT[11], NM_182554.4:c.*1358GT[12], NM_182554.4:c.*1358GT[14], NM_182554.4:c.*1358GT[15], NM_182554.4:c.*1358GT[16], NM_182554.4:c.*1358GT[17], NM_182554.3:c.*1358GT[6], NM_182554.3:c.*1358GT[7], NM_182554.3:c.*1358GT[8], NM_182554.3:c.*1358GT[9], NM_182554.3:c.*1358GT[10], NM_182554.3:c.*1358GT[11], NM_182554.3:c.*1358GT[12], NM_182554.3:c.*1358GT[14], NM_182554.3:c.*1358GT[15], NM_182554.3:c.*1358GT[16], NM_182554.3:c.*1358GT[17]

Select item 14913411603.

rs1491341160 [Homo sapiens]

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

Select item 14909899974.

rs1490989997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49678320 (GRCh38)
10:50886366 (GRCh37)
Canonical SPDI:: NC_000010.11:49678319:T:C
Gene:: C10orf53 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.49678320T>C, NC_000010.10:g.50886366T>C

Select item 14908219705.

rs1490821970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:49681135 (GRCh38)
10:50889181 (GRCh37)
Canonical SPDI:: NC_000010.11:49681134:A:C,NC_000010.11:49681134:A:G
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.003333/2 (NorthernSweden)
HGVS:: NC_000010.11:g.49681135A>C, NC_000010.11:g.49681135A>G, NC_000010.10:g.50889181A>C, NC_000010.10:g.50889181A>G

Select item 14907555756.

rs1490755575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49695605 (GRCh38)
10:50903651 (GRCh37)
Canonical SPDI:: NC_000010.11:49695604:C:T
Gene:: C10orf53 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.49695605C>T, NC_000010.10:g.50903651C>T, NM_001042427.3:c.*1003C>T, NM_001042427.2:c.*1003C>T

Select item 14906884747.

rs1490688474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49692182 (GRCh38)
10:50900228 (GRCh37)
Canonical SPDI:: NC_000010.11:49692181:G:A
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.49692182G>A, NC_000010.10:g.50900228G>A

Select item 14906247258.

rs1490624725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:49709751 (GRCh38)
10:50917797 (GRCh37)
Canonical SPDI:: NC_000010.11:49709750:C:A,NC_000010.11:49709750:C:G
Gene:: C10orf53 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.49709751C>A, NC_000010.11:g.49709751C>G, NC_000010.10:g.50917797C>A, NC_000010.10:g.50917797C>G, NM_182554.4:c.*1134C>A, NM_182554.4:c.*1134C>G, NM_182554.3:c.*1134C>A, NM_182554.3:c.*1134C>G

Select item 14905988639.

rs1490598863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:49709664 (GRCh38)
10:50917710 (GRCh37)
Canonical SPDI:: NC_000010.11:49709663:A:C,NC_000010.11:49709663:A:G
Gene:: C10orf53 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
C=0.000248/4 (TOMMO)
HGVS:: NC_000010.11:g.49709664A>C, NC_000010.11:g.49709664A>G, NC_000010.10:g.50917710A>C, NC_000010.10:g.50917710A>G, NM_182554.4:c.*1047A>C, NM_182554.4:c.*1047A>G, NM_182554.3:c.*1047A>C, NM_182554.3:c.*1047A>G

Select item 149049982610.

rs1490499826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:49679585 (GRCh38)
10:50887631 (GRCh37)
Canonical SPDI:: NC_000010.11:49679584:G:A,NC_000010.11:49679584:G:C
Gene:: C10orf53 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49679585G>A, NC_000010.11:g.49679585G>C, NC_000010.10:g.50887631G>A, NC_000010.10:g.50887631G>C

Select item 149038390911.

rs1490383909 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:49701528 (GRCh38)
10:50909574 (GRCh37)
Canonical SPDI:: NC_000010.11:49701527:TT:T
Gene:: C10orf53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.49701529del, NC_000010.10:g.50909575del

Select item 149019941412.

rs1490199414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:49692714 (GRCh38)
10:50900760 (GRCh37)
Canonical SPDI:: NC_000010.11:49692713:G:C
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_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_000010.11:g.49692714G>C, NC_000010.10:g.50900760G>C

Select item 149007747413.

rs1490077474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:49684747 (GRCh38)
10:50892793 (GRCh37)
Canonical SPDI:: NC_000010.11:49684746:A:T
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49684747A>T, NC_000010.10:g.50892793A>T

Select item 148994477314.

rs1489944773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49685853 (GRCh38)
10:50893899 (GRCh37)
Canonical SPDI:: NC_000010.11:49685852:T:C
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49685853T>C, NC_000010.10:g.50893899T>C

Select item 148989655915.

rs1489896559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:49702012 (GRCh38)
10:50910058 (GRCh37)
Canonical SPDI:: NC_000010.11:49702011:G:A,NC_000010.11:49702011:G:T
Gene:: C10orf53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.49702012G>A, NC_000010.11:g.49702012G>T, NC_000010.10:g.50910058G>A, NC_000010.10:g.50910058G>T

Select item 148974382816.

rs1489743828 [Homo sapiens]

Variant type:: DEL
Alleles:: TTAAAAACTAGTTAACATTTTACCAGCCCATGGCCTTT>- [Show Flanks]
Chromosome:: 10:49694405 (GRCh38)
10:50902451 (GRCh37)
Canonical SPDI:: NC_000010.11:49694404:TTAAAAACTAGTTAACATTTTACCAGCCCATGGCCTTT:
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.49694405_49694442del, NC_000010.10:g.50902451_50902488del

Select item 148973446317.

rs1489734463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:49685956 (GRCh38)
10:50894002 (GRCh37)
Canonical SPDI:: NC_000010.11:49685955:C:G
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.49685956C>G, NC_000010.10:g.50894002C>G

Select item 148970639918.

rs1489706399 has merged into rs67695235 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:49699195 (GRCh38)
10:50907241 (GRCh37)
Canonical SPDI:: NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:49699190:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C10orf53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.49699195_49699214del, NC_000010.11:g.49699202_49699214del, NC_000010.11:g.49699203_49699214del, NC_000010.11:g.49699204_49699214del, NC_000010.11:g.49699205_49699214del, NC_000010.11:g.49699206_49699214del, NC_000010.11:g.49699207_49699214del, NC_000010.11:g.49699208_49699214del, NC_000010.11:g.49699209_49699214del, NC_000010.11:g.49699210_49699214del, NC_000010.11:g.49699211_49699214del, NC_000010.11:g.49699212_49699214del, NC_000010.11:g.49699213_49699214del, NC_000010.11:g.49699214del, NC_000010.11:g.49699214dup, NC_000010.11:g.49699213_49699214dup, NC_000010.11:g.49699191_49699214T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699212_49699214dup, NC_000010.11:g.49699191_49699214T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699211_49699214dup, NC_000010.11:g.49699210_49699214dup, NC_000010.11:g.49699209_49699214dup, NC_000010.11:g.49699191_49699214T[30]GTT[2]T[35], NC_000010.11:g.49699208_49699214dup, NC_000010.11:g.49699191_49699214T[31]AATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699207_49699214dup, NC_000010.11:g.49699191_49699214T[32]GTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[32]GTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699206_49699214dup, NC_000010.11:g.49699205_49699214dup, NC_000010.11:g.49699191_49699214T[34]ATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[34]GTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699204_49699214dup, NC_000010.11:g.49699203_49699214dup, NC_000010.11:g.49699191_49699214T[36]ATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699191_49699214T[37]CTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699199_49699214dup, NC_000010.11:g.49699191_49699214T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.49699197_49699214dup, NC_000010.11:g.49699195_49699214dup, NC_000010.11:g.49699194_49699214dup, NC_000010.11:g.49699193_49699214dup, NC_000010.11:g.49699192_49699214dup, NC_000010.11:g.49699191_49699214dup, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.49699214_49699215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907241_50907260del, NC_000010.10:g.50907248_50907260del, NC_000010.10:g.50907249_50907260del, NC_000010.10:g.50907250_50907260del, NC_000010.10:g.50907251_50907260del, NC_000010.10:g.50907252_50907260del, NC_000010.10:g.50907253_50907260del, NC_000010.10:g.50907254_50907260del, NC_000010.10:g.50907255_50907260del, NC_000010.10:g.50907256_50907260del, NC_000010.10:g.50907257_50907260del, NC_000010.10:g.50907258_50907260del, NC_000010.10:g.50907259_50907260del, NC_000010.10:g.50907260del, NC_000010.10:g.50907260dup, NC_000010.10:g.50907259_50907260dup, NC_000010.10:g.50907237_50907260T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907258_50907260dup, NC_000010.10:g.50907237_50907260T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907257_50907260dup, NC_000010.10:g.50907256_50907260dup, NC_000010.10:g.50907255_50907260dup, NC_000010.10:g.50907237_50907260T[30]GTT[2]T[35], NC_000010.10:g.50907254_50907260dup, NC_000010.10:g.50907237_50907260T[31]AATTTTTTTTTTTGGTGGTTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907253_50907260dup, NC_000010.10:g.50907237_50907260T[32]GTTGGTTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[32]GTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907252_50907260dup, NC_000010.10:g.50907251_50907260dup, NC_000010.10:g.50907237_50907260T[34]ATTTTTTTTTTTTGGTGTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[34]GTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907250_50907260dup, NC_000010.10:g.50907249_50907260dup, NC_000010.10:g.50907237_50907260T[36]ATTTTTTTTTTTTTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907237_50907260T[37]CTTTTTGTTTTGGTGGCTCAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907245_50907260dup, NC_000010.10:g.50907237_50907260T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.50907243_50907260dup, NC_000010.10:g.50907241_50907260dup, NC_000010.10:g.50907240_50907260dup, NC_000010.10:g.50907239_50907260dup, NC_000010.10:g.50907238_50907260dup, NC_000010.10:g.50907237_50907260dup, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.50907260_50907261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148965218819.

rs1489652188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49693222 (GRCh38)
10:50901268 (GRCh37)
Canonical SPDI:: NC_000010.11:49693221:A:G
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_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_000010.11:g.49693222A>G, NC_000010.10:g.50901268A>G

Select item 148956615320.

rs1489566153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49689791 (GRCh38)
10:50897837 (GRCh37)
Canonical SPDI:: NC_000010.11:49689790:A:G
Gene:: C10orf53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49689791A>G, NC_000010.10:g.50897837A>G

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